Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.182579884A>C , CM000663.2:g.182579884A>C | GRCh38 |
| NC_000001.10:g.182549019A>C , CM000663.1:g.182549019A>C | GRCh37 |
| NC_000001.9:g.180815642A>C | NCBI36 |
| NG_009024.2:g.12090T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021133.4:c.1905+1341T>G MANE Select | NP_066956.1:n.1905+1341T>G |
| ENST00000367559.7:c.1905+1341T>G MANE Select | ENSP00000356530.3:n.1905+1341T>G |
| NM_021133.3:c.1905+1341T>G | NP_066956.1:n.1905+1341T>G |
| ENST00000539397.1:c.*70T>G | ENSP00000440844.1:n.*70T>G |
| XM_005245411.2:c.*70T>G | XP_005245468.1:n.*70T>G |
| XR_001737359.1:n.2238+74T>G | |
| XR_001737360.1:n.2312T>G |