Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.129766998G>A , CM000672.2:g.129766998G>A | GRCh38 |
| NC_000010.10:g.131565262G>A , CM000672.1:g.131565262G>A | GRCh37 |
| NC_000010.9:g.131455252G>A | NCBI36 |
| NG_052673.1:g.304815G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306010.8:c.*1G>A | ENSP00000302111.7:n.*1G>A | |
| ENST00000651593.1:c.*1G>A MANE Select | ENSP00000498729.1:n.*1G>A | |
| ENST00000306010.7:c.*1G>A | ENSP00000302111.7:n.*1G>A | |
| NM_002412.3:c.*1G>A | NP_002403.2:n.*1G>A | |
| NM_002412.4:c.*1G>A | NP_002403.2:n.*1G>A | |
| XM_005252682.2:c.*1G>A | XP_005252739.1:n.*1G>A | |
| XM_006717863.2:c.*1G>A | XP_006717926.1:n.*1G>A | |
| XM_011539817.1:c.*1G>A | XP_011538119.1:n.*1G>A | |
| NM_002412.5:c.*1G>A MANE Select | NP_002403.3:n.*1G>A | |
| XM_017016275.1:c.*1G>A | XP_016871764.1:n.*1G>A |