Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10639631G>A , CM000682.2:g.10639631G>A | GRCh38 |
| NC_000020.10:g.10620279G>A , CM000682.1:g.10620279G>A | GRCh37 |
| NC_000020.9:g.10568279G>A | NCBI36 |
| NG_007496.1:g.39416C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.3524C>T MANE Select | ENSP00000254958.4:p.Ala1175Val | |
| ENST00000254958.9:c.3524C>T | ENSP00000254958.4:p.Ala1175Val | |
| ENST00000423891.6:n.3390C>T | ||
| NM_000214.2:c.3524C>T | NP_000205.1:p.Ala1175Val | |
| NM_000214.3:c.3524C>T MANE Select | NP_000205.1:p.Ala1175Val |