Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.93125038G>A , CM000671.2:g.93125038G>A | GRCh38 |
| NC_000009.11:g.95887320G>A , CM000671.1:g.95887320G>A | GRCh37 |
| NC_000009.10:g.94927141G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375446.5:c.329C>T MANE Select | ENSP00000364595.4:p.Ala110Val | |
| ENST00000375446.4:c.329C>T | ENSP00000364595.4:p.Ala110Val | |
| ENST00000461162.5:n.388C>T | ||
| ENST00000470314.5:n.297C>T | ||
| ENST00000489274.1:n.1153C>T | ||
| NM_004148.3:c.329C>T | NP_004139.2:p.Ala110Val | |
| XM_011518716.1:c.179C>T | XP_011517018.1:p.Ala60Val | |
| NM_004148.4:c.329C>T MANE Select | NP_004139.2:p.Ala110Val |