Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431615A>C , CM000663.2:g.229431615A>C | GRCh38 |
| NC_000001.10:g.229567362A>C , CM000663.1:g.229567362A>C | GRCh37 |
| NC_000001.9:g.227633985A>C | NCBI36 |
| NG_006672.1:g.7482T>G , LRG_429:g.7482T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001100.4:c.1018T>G MANE Select | NP_001091.1:p.Ser340Ala |
| ENST00000366684.7:c.1018T>G MANE Select | ENSP00000355645.3:p.Ser340Ala |
| NM_001100.3:c.1018T>G , LRG_429t1:c.1018T>G | NP_001091.1:p.Ser340Ala |
| ENST00000366683.3:c.649T>G | ENSP00000355644.3:p.Ser217Ala |
| ENST00000366683.4:c.991-51T>G | ENSP00000355644.4:n.991-51T>G |
| ENST00000684723.1:c.883T>G | ENSP00000508084.1:p.Ser295Ala |