Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.71781190T>C , CM000665.2:g.71781190T>C | GRCh38 |
| NC_000003.11:g.71830341T>C , CM000665.1:g.71830341T>C | GRCh37 |
| NC_000003.10:g.71913031T>C | NCBI36 |
| NG_008275.1:g.9017A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001126128.2:c.222+277A>G MANE Select | NP_001119600.1:n.222+277A>G |
| ENST00000295619.4:c.222+277A>G MANE Select | ENSP00000295619.3:n.222+277A>G |
| NM_001126128.1:c.222+277A>G | NP_001119600.1:n.222+277A>G |
| NM_021935.3:c.222+277A>G | NP_068754.1:n.222+277A>G |
| NM_021935.4:c.222+277A>G | NP_068754.1:n.222+277A>G |
| ENST00000295619.3:c.222+277A>G | ENSP00000295619.3:n.222+277A>G |
| ENST00000353065.7:c.222+277A>G | ENSP00000295618.3:n.222+277A>G |
| XM_017006974.1:c.162+277A>G | XP_016862463.1:n.162+277A>G |