Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.71773105G>A , CM000665.2:g.71773105G>A | GRCh38 |
| NC_000003.11:g.71822256G>A , CM000665.1:g.71822256G>A | GRCh37 |
| NC_000003.10:g.71904946G>A | NCBI36 |
| NG_008275.1:g.17102C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001126128.2:c.286-277C>T MANE Select | NP_001119600.1:n.286-277C>T |
| ENST00000295619.4:c.286-277C>T MANE Select | ENSP00000295619.3:n.286-277C>T |
| NM_001126128.1:c.286-277C>T | NP_001119600.1:n.286-277C>T |
| NM_021935.3:c.223-277C>T | NP_068754.1:n.223-277C>T |
| NM_021935.4:c.223-277C>T | NP_068754.1:n.223-277C>T |
| ENST00000295619.3:c.286-277C>T | ENSP00000295619.3:n.286-277C>T |
| ENST00000353065.7:c.223-277C>T | ENSP00000295618.3:n.223-277C>T |
| XM_017006974.1:c.226-277C>T | XP_016862463.1:n.226-277C>T |