Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136673908C>A , CM000671.2:g.136673908C>A | GRCh38 |
| NC_000009.11:g.139568360C>A , CM000671.1:g.139568360C>A | GRCh37 |
| NC_000009.10:g.138688181C>A | NCBI36 |
| NG_008090.1:g.18552G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.681G>T MANE Select | ENSP00000360761.2:p.Val227= | |
| ENST00000371694.7:c.585G>T | ENSP00000360759.3:p.Val195= | |
| ENST00000371696.6:c.681G>T | ENSP00000360761.2:p.Val227= | |
| ENST00000472820.1:n.609G>T | ||
| ENST00000538402.1:c.681G>T | ENSP00000438919.1:p.Val227= | |
| NM_001012727.1:c.585G>T | NP_001012745.1:p.Val195= | |
| NM_006412.3:c.681G>T | NP_006403.2:p.Val227= | |
| NM_006412.4:c.681G>T MANE Select | NP_006403.2:p.Val227= | |
| NM_001012727.2:c.585G>T | NP_001012745.1:p.Val195= |