Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100670882C>T , CM000685.2:g.100670882C>T | GRCh38 |
| NC_000023.10:g.99925879C>T , CM000685.1:g.99925879C>T | GRCh37 |
| NC_000023.9:g.99812535C>T | NCBI36 |
| NG_021337.1:g.31717C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014467.3:c.1293C>T MANE Select | NP_055282.1:p.Tyr431= |
| ENST00000373004.5:c.1293C>T MANE Select | ENSP00000362095.3:p.Tyr431= |
| NM_014467.2:c.1293C>T | NP_055282.1:p.Tyr431= |
| ENST00000373004.3:c.1293C>T | ENSP00000362095.3:p.Tyr431= |
| ENST00000638920.1:n.1296C>T | |
| ENST00000640282.1:c.217C>T | ENSP00000491188.1:n.217C>T |
| XM_005262121.2:c.1293C>T | XP_005262178.1:p.Tyr431= |