Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77562486A>T , CM000676.2:g.77562486A>T | GRCh38 |
| NC_000014.8:g.78028829A>T , CM000676.1:g.78028829A>T | GRCh37 |
| NC_000014.7:g.77098582A>T | NCBI36 |
| NG_028282.1:g.59282T>A , LRG_371:g.59282T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687688.1:n.523T>A | ||
| ENST00000691887.1:n.628-5340T>A | ||
| ENST00000692906.1:n.492T>A | ||
| ENST00000216484.7:c.760T>A MANE Select | ENSP00000216484.2:p.Cys254Ser | |
| ENST00000216484.6:c.760T>A | ENSP00000216484.2:p.Cys254Ser | |
| ENST00000554901.1:c.569T>A | ||
| NM_004863.3:c.760T>A , LRG_371t1:c.760T>A | NP_004854.1:p.Cys254Ser | |
| XM_011537384.1:c.760T>A | XP_011535686.1:p.Cys254Ser | |
| XM_011537384.2:c.760T>A | XP_011535686.1:p.Cys254Ser | |
| NM_004863.4:c.760T>A MANE Select | NP_004854.1:p.Cys254Ser |