Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183243173G>T , CM000663.2:g.183243173G>T | GRCh38 |
| NC_000001.10:g.183212308G>T , CM000663.1:g.183212308G>T | GRCh37 |
| NC_000001.9:g.181478931G>T | NCBI36 |
| NG_007079.2:g.61910G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264144.5:c.3355G>T MANE Select | ENSP00000264144.4:p.Gly1119Trp | |
| ENST00000264144.4:c.3355G>T | ENSP00000264144.4:p.Gly1119Trp | |
| NM_005562.2:c.3355G>T | NP_005553.2:p.Gly1119Trp | |
| NM_005562.3:c.3355G>T MANE Select | NP_005553.2:p.Gly1119Trp |