Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154576404G>A , CM000663.2:g.154576404G>A | GRCh38 |
| NC_000001.10:g.154548880G>A , CM000663.1:g.154548880G>A | GRCh37 |
| NC_000001.9:g.152815504G>A | NCBI36 |
| NG_008027.1:g.13624G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000748.3:c.*472G>A MANE Select | NP_000739.1:n.*472G>A |
| ENST00000368476.4:c.*472G>A MANE Select | ENSP00000357461.3:n.*472G>A |
| NM_000748.2:c.*472G>A | NP_000739.1:n.*472G>A |
| ENST00000368476.3:c.*472G>A | ENSP00000357461.3:n.*472G>A |
| ENST00000636034.1:c.1506-244G>A | ENSP00000489703.1:n.1506-244G>A |
| ENST00000637900.1:c.*472G>A | ENSP00000490474.1:n.*472G>A |
| XM_017000180.2:c.*472G>A | XP_016855669.1:n.*472G>A |
| XR_001736952.2:n.2233G>A |