Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17590447C>A , CM000672.2:g.17590447C>A | GRCh38 |
| NC_000010.10:g.17632446C>A , CM000672.1:g.17632446C>A | GRCh37 |
| NC_000010.9:g.17672452C>A | NCBI36 |
| NG_041789.1:g.31928G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014241.4:c.785-1G>T MANE Select | NP_055056.3:n.785-1G>T |
| ENST00000361271.8:c.785-1G>T MANE Select | ENSP00000355308.3:n.785-1G>T |
| NM_014241.3:c.785-1G>T | NP_055056.3:n.785-1G>T |
| ENST00000361271.7:c.785-1G>T | ENSP00000355308.3:n.785-1G>T |
| ENST00000498812.5:c.288-1G>T | ENSP00000462868.1:n.288-1G>T |
| XM_005252641.3:c.677-1G>T | XP_005252698.1:n.677-1G>T |
| XM_005252641.4:c.677-1G>T | XP_005252698.1:n.677-1G>T |