Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.52688165C>T , CM000663.2:g.52688165C>T | GRCh38 |
| NC_000001.10:g.53153837C>T , CM000663.1:g.53153837C>T | GRCh37 |
| NC_000001.9:g.52926425C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371538.5:c.251G>A MANE Select | ENSP00000360593.3:p.Gly84Asp | |
| ENST00000371538.4:c.251G>A | ENSP00000360593.3:p.Gly84Asp | |
| ENST00000486918.1:n.305G>A | ||
| NM_023077.2:c.251G>A | NP_075565.2:p.Gly84Asp | |
| NM_023077.3:c.251G>A MANE Select | NP_075565.2:p.Gly84Asp |