Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94852745G>A , CM000672.2:g.94852745G>A | GRCh38 |
| NC_000010.10:g.96612502G>A , CM000672.1:g.96612502G>A | GRCh37 |
| NC_000010.9:g.96602492G>A | NCBI36 |
| NG_008384.2:g.95040G>A | |
| NG_008384.3:g.95065G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.1304G>A MANE Select | ENSP00000360372.3:p.Cys435Tyr | |
| ENST00000645461.1:n.2215G>A | ||
| ENST00000371321.7:c.1304G>A | ENSP00000360372.3:p.Cys435Tyr | |
| ENST00000464755.1:c.2067G>A | ENSP00000483243.1:n.2067G>A | |
| NM_000769.2:c.1304G>A | NP_000760.1:p.Cys435Tyr | |
| NM_000769.4:c.1304G>A MANE Select | NP_000760.1:p.Cys435Tyr |