Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.99985413A>G , CM000675.2:g.99985413A>G | GRCh38 |
| NC_000013.10:g.100637667A>G , CM000675.1:g.100637667A>G | GRCh37 |
| NC_000013.9:g.99435668A>G | NCBI36 |
| NG_007085.2:g.8349A>G | |
| NG_007085.3:g.8658A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376335.8:c.1330A>G MANE Select | ENSP00000365514.3:p.Ser444Gly | |
| ENST00000376335.7:c.1330A>G | ENSP00000365514.3:p.Ser444Gly | |
| ENST00000468291.1:n.304A>G | ||
| ENST00000477213.1:n.412A>G | ||
| ENST00000490085.5:n.376A>G | ||
| ENST00000620342.1:c.1327A>G | ENSP00000481510.1:p.Ser443Gly | |
| NM_007129.3:c.1330A>G | NP_009060.2:p.Ser444Gly | |
| XM_011521110.1:c.*83A>G | XP_011519412.1:n.*83A>G | |
| NM_007129.4:c.1330A>G | NP_009060.2:p.Ser444Gly | |
| NM_007129.5:c.1330A>G MANE Select | NP_009060.2:p.Ser444Gly |