Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.149946591G>A , CM000668.2:g.149946591G>A | GRCh38 |
| NC_000006.11:g.150267727G>A , CM000668.1:g.150267727G>A | GRCh37 |
| NC_000006.10:g.150309420G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025217.4:c.569G>A MANE Select | NP_079493.1:p.Cys190Tyr |
| ENST00000367351.4:c.569G>A MANE Select | ENSP00000356320.3:p.Cys190Tyr |
| NM_025217.3:c.569G>A | NP_079493.1:p.Cys190Tyr |
| ENST00000367351.3:c.569G>A | ENSP00000356320.3:p.Cys190Tyr |
| XM_017011321.1:c.569G>A | XP_016866810.1:p.Cys190Tyr |