Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6079484C>T , CM000682.2:g.6079484C>T | GRCh38 |
| NC_000020.10:g.6060131C>T , CM000682.1:g.6060131C>T | GRCh37 |
| NC_000020.9:g.6008131C>T | NCBI36 |
| NG_016213.1:g.49061G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017671.5:c.1812G>A MANE Select | NP_060141.3:p.Trp604Ter |
| ENST00000217289.9:c.1812G>A MANE Select | ENSP00000217289.4:p.Trp604Ter |
| NM_017671.4:c.1812G>A | NP_060141.3:p.Trp604Ter |
| ENST00000217289.8:c.1812G>A | ENSP00000217289.4:p.Trp604Ter |
| ENST00000478194.1:n.772G>A | |
| ENST00000536936.1:c.1041G>A | ENSP00000441063.1:p.Trp347Ter |
| ENST00000699095.1:c.1812G>A | ENSP00000514127.1:p.Trp604Ter |
| XM_024451935.1:c.1812G>A | XP_024307703.1:p.Trp604Ter |