Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233618537G>A , CM000664.2:g.233618537G>A | GRCh38 |
| NC_000002.11:g.234527183G>A , CM000664.1:g.234527183G>A | GRCh37 |
| NC_000002.10:g.234191922G>A | NCBI36 |
| NG_002601.2:g.33794G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019076.5:c.830G>A MANE Select | NP_061949.3:p.Cys277Tyr |
| ENST00000373450.5:c.830G>A MANE Select | ENSP00000362549.4:p.Cys277Tyr |
| NM_019076.4:c.830G>A | NP_061949.3:p.Cys277Tyr |
| ENST00000373450.4:c.830G>A | ENSP00000362549.4:p.Cys277Tyr |