Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.62447342T>G , CM000663.2:g.62447342T>G | GRCh38 |
| NC_000001.10:g.62913013T>G , CM000663.1:g.62913013T>G | GRCh37 |
| NC_000001.9:g.62685601T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339950.5:c.1251T>G MANE Select | ENSP00000343526.4:p.Gly417= | |
| ENST00000339950.4:c.1251T>G | ENSP00000343526.4:p.Gly417= | |
| ENST00000371146.5:c.1251T>G | ENSP00000360188.1:p.Gly417= | |
| NM_001017415.1:c.1251T>G | NP_001017415.1:p.Gly417= | |
| NM_001017416.1:c.1251T>G | NP_001017416.1:p.Gly417= | |
| NM_003368.4:c.1251T>G | NP_003359.3:p.Gly417= | |
| NM_003368.5:c.1251T>G MANE Select | NP_003359.3:p.Gly417= | |
| NM_001017415.2:c.1251T>G | NP_001017415.1:p.Gly417= | |
| NM_001017416.2:c.1251T>G | NP_001017416.1:p.Gly417= |