Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218164610A>G , CM000664.2:g.218164610A>G | GRCh38 |
| NC_000002.11:g.219029333A>G , CM000664.1:g.219029333A>G | GRCh37 |
| NC_000002.10:g.218737578A>G | NCBI36 |
| NG_011814.1:g.7384T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000634.3:c.602T>C MANE Select | NP_000625.1:p.Val201Ala |
| ENST00000295683.3:c.602T>C MANE Select | ENSP00000295683.2:p.Val201Ala |
| NM_000634.2:c.602T>C | NP_000625.1:p.Val201Ala |
| ENST00000295683.2:c.602T>C | ENSP00000295683.2:p.Val201Ala |