Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17816858T>C , CM000681.2:g.17816858T>C | GRCh38 |
| NC_000019.9:g.17927667T>C , CM000681.1:g.17927667T>C | GRCh37 |
| NC_000019.8:g.17788667T>C | NCBI36 |
| NG_012092.1:g.9654A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317306.8:c.392A>G MANE Select | ENSP00000321724.6:p.Tyr131Cys | |
| ENST00000317306.7:c.392A>G | ENSP00000321724.6:p.Tyr131Cys | |
| ENST00000379695.5:c.*13A>G | ENSP00000369017.4:n.*13A>G | |
| ENST00000598577.1:c.413A>G | ||
| NM_001265587.1:c.*13A>G | NP_001252516.1:n.*13A>G | |
| NM_005543.3:c.392A>G | NP_005534.2:p.Tyr131Cys | |
| NM_001265587.2:c.*13A>G | NP_001252516.1:n.*13A>G | |
| NM_005543.4:c.392A>G MANE Select | NP_005534.2:p.Tyr131Cys |