Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571196G>T , CM000663.2:g.154571196G>T | GRCh38 |
| NC_000001.10:g.154543672G>T , CM000663.1:g.154543672G>T | GRCh37 |
| NC_000001.9:g.152810296G>T | NCBI36 |
| NG_008027.1:g.8416G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.373G>T MANE Select | ENSP00000357461.3:p.Gly125Cys | |
| ENST00000636034.1:c.373G>T | ENSP00000489703.1:p.Gly125Cys | |
| ENST00000637900.1:c.379G>T | ENSP00000490474.1:p.Gly127Cys | |
| ENST00000368476.3:c.373G>T | ENSP00000357461.3:p.Gly125Cys | |
| NM_000748.2:c.373G>T | NP_000739.1:p.Gly125Cys | |
| XM_017000180.2:c.-9-129G>T | XP_016855669.1:n.-9-129G>T | |
| XR_001736952.2:n.625G>T | ||
| NM_000748.3:c.373G>T MANE Select | NP_000739.1:p.Gly125Cys |