Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102503969G>A , CM000672.2:g.102503969G>A | GRCh38 |
| NC_000010.10:g.104263726G>A , CM000672.1:g.104263726G>A | GRCh37 |
| NC_000010.9:g.104253716G>A | NCBI36 |
| NG_011901.1:g.3787C>T | |
| NG_021338.1:g.5008G>A , LRG_521:g.5008G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001178133.1:c.-184G>A | NP_001171604.1:n.-184G>A | |
| NM_016169.3:c.-184G>A , LRG_521t1:c.-184G>A | NP_057253.2:n.-184G>A | |
| XM_011539858.1:c.-184G>A | XP_011538160.1:n.-184G>A | |
| XM_011539859.1:c.-29-155G>A | XP_011538161.1:n.-29-155G>A | |
| XM_011539860.1:c.-184G>A | XP_011538162.1:n.-184G>A | |
| XM_011539863.1:c.8+983G>A | XP_011538165.1:n.8+983G>A | |
| XM_011539863.3:c.8+983G>A | XP_011538165.1:n.8+983G>A |