Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571322C>A , CM000663.2:g.154571322C>A | GRCh38 |
| NC_000001.10:g.154543798C>A , CM000663.1:g.154543798C>A | GRCh37 |
| NC_000001.9:g.152810422C>A | NCBI36 |
| NG_008027.1:g.8542C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.499C>A MANE Select | ENSP00000357461.3:p.Gln167Lys | |
| ENST00000636034.1:c.499C>A | ENSP00000489703.1:p.Gln167Lys | |
| ENST00000637900.1:c.505C>A | ENSP00000490474.1:p.Gln169Lys | |
| ENST00000368476.3:c.499C>A | ENSP00000357461.3:p.Gln167Lys | |
| NM_000748.2:c.499C>A | NP_000739.1:p.Gln167Lys | |
| XM_017000180.2:c.-9-3C>A | XP_016855669.1:n.-9-3C>A | |
| XR_001736952.2:n.751C>A | ||
| NM_000748.3:c.499C>A MANE Select | NP_000739.1:p.Gln167Lys |