Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21010210C>T , CM000664.2:g.21010210C>T | GRCh38 |
| NC_000002.11:g.21233082C>T , CM000664.1:g.21233082C>T | GRCh37 |
| NC_000002.10:g.21086587C>T | NCBI36 |
| NG_011793.1:g.38864G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.6658G>A MANE Select | ENSP00000233242.1:p.Val2220Ile | |
| ENST00000616098.4:c.6658G>A | ENSP00000477990.1:p.Val2220Ile | |
| NM_000384.2:c.6658G>A | NP_000375.2:p.Val2220Ile | |
| XM_011532809.1:c.5869+523G>A | XP_011531111.1:n.5869+523G>A | |
| NM_000384.3:c.6658G>A MANE Select | NP_000375.3:p.Val2220Ile |