Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38411926T>A , CM000685.2:g.38411926T>A | GRCh38 |
| NC_000023.10:g.38271179T>A , CM000685.1:g.38271179T>A | GRCh37 |
| NC_000023.9:g.38156123T>A | NCBI36 |
| NG_008471.1:g.64444T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000531.6:c.932T>A MANE Select | NP_000522.3:p.Val311Glu |
| ENST00000039007.5:c.932T>A MANE Select | ENSP00000039007.4:p.Val311Glu |
| NM_000531.5:c.932T>A | NP_000522.3:p.Val311Glu |
| ENST00000039007.4:c.932T>A | ENSP00000039007.4:p.Val311Glu |
| ENST00000465127.1:c.172-254195T>A | ENSP00000417050.1:n.172-254195T>A |
| ENST00000643344.1:c.*682T>A | ENSP00000496606.1:n.*682T>A |