Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893223G>T , CM000664.2:g.218893223G>T | GRCh38 |
| NC_000002.11:g.219757945G>T , CM000664.1:g.219757945G>T | GRCh37 |
| NC_000002.10:g.219466189G>T | NCBI36 |
| NG_012179.1:g.17691G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.1206G>T MANE Select | ENSP00000258411.3:p.Val402= | |
| ENST00000258411.7:c.1206G>T | ENSP00000258411.3:p.Val402= | |
| ENST00000489887.1:n.3G>T | ||
| NM_025216.2:c.1206G>T | NP_079492.2:p.Val402= | |
| XM_011511928.1:c.1155G>T | XP_011510230.1:p.Val385= | |
| XM_011511929.1:c.1110G>T | XP_011510231.1:p.Val370= | |
| XM_011511930.1:c.826G>T | XP_011510232.1:p.Gly276Cys | |
| XM_011511929.2:c.1110G>T | XP_011510231.1:p.Val370= | |
| NM_025216.3:c.1206G>T MANE Select | NP_079492.2:p.Val402= |