Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23868070C>A , CM000663.2:g.23868070C>A | GRCh38 |
| NC_000001.10:g.24194560C>A , CM000663.1:g.24194560C>A | GRCh37 |
| NC_000001.9:g.24067147C>A | NCBI36 |
| NG_013346.1:g.5300G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.217G>T MANE Select | ENSP00000363603.3:p.Gly73Cys | |
| ENST00000374479.3:c.217G>T | ENSP00000363603.3:p.Gly73Cys | |
| NM_000147.4:c.217G>T | NP_000138.2:p.Gly73Cys | |
| XM_005245821.1:c.-333G>T | XP_005245878.1:n.-333G>T | |
| XM_005245821.3:c.-333G>T | XP_005245878.1:n.-333G>T | |
| NM_000147.5:c.217G>T MANE Select | NP_000138.2:p.Gly73Cys | |
| NR_174379.1:n.221G>T | ||
| NR_174380.1:n.221G>T | ||
| NR_174381.1:n.221G>T | ||
| NR_174382.1:n.221G>T |