Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41123734C>T , CM000679.2:g.41123734C>T | GRCh38 |
| NC_000017.10:g.39279986C>T , CM000679.1:g.39279986C>T | GRCh37 |
| NC_000017.9:g.36533512C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031854.3:c.389G>A MANE Select | NP_114060.1:p.Cys130Tyr |
| ENST00000394014.2:c.389G>A MANE Select | ENSP00000377582.1:p.Cys130Tyr |
| NM_031854.2:c.389G>A | NP_114060.1:p.Cys130Tyr |
| ENST00000394014.1:c.389G>A | ENSP00000377582.1:p.Cys130Tyr |