This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127814151T>C , CM000671.2:g.127814151T>C | GRCh38 |
| NC_000009.11:g.130576430T>C , CM000671.1:g.130576430T>C | GRCh37 |
| NC_000009.10:g.129616251T>C | NCBI36 |
| NG_009551.1:g.45618A>G , LRG_589:g.45618A>G | |
| NG_023245.1:g.16277T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000467826.5:n.710-57T>C | |
| XM_005251864.2:c.1484-57T>C | XP_005251921.1:n.1484-57T>C |
| XM_005251864.4:c.1484-57T>C | XP_005251921.1:n.1484-57T>C |
| XM_017014565.2:c.1334-57T>C | XP_016870054.1:n.1334-57T>C |
| XR_242582.2:n.1381-57T>C | |
| XR_242582.4:n.1379-57T>C |