Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3770767C>A , CM000681.2:g.3770767C>A | GRCh38 |
| NC_000019.9:g.3770765C>A , CM000681.1:g.3770765C>A | GRCh37 |
| NC_000019.8:g.3721765C>A | NCBI36 |
| NG_011565.1:g.6455G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555633.3:c.409G>T MANE Select | ENSP00000450456.3:p.Gly137Cys | |
| ENST00000555633.2:c.409G>T | ENSP00000450456.2:p.Gly137Cys | |
| ENST00000555978.5:c.409G>T | ENSP00000450687.2:p.Gly137Cys | |
| NM_032753.3:c.409G>T | NP_116142.1:p.Gly137Cys | |
| XM_005259662.1:c.547G>T | XP_005259719.1:p.Gly183Cys | |
| NM_001319074.1:c.547G>T | NP_001306003.1:p.Gly183Cys | |
| NM_001319074.4:c.409G>T MANE Select | NP_001306003.2:p.Gly137Cys | |
| NM_032753.4:c.409G>T | NP_116142.1:p.Gly137Cys |