Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431518A>G , CM000663.2:g.229431518A>G | GRCh38 |
| NC_000001.10:g.229567265A>G , CM000663.1:g.229567265A>G | GRCh37 |
| NC_000001.9:g.227633888A>G | NCBI36 |
| NG_006672.1:g.7579T>C , LRG_429:g.7579T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.1037T>C | ENSP00000355644.4:p.Val346Ala | |
| ENST00000684723.1:c.980T>C | ENSP00000508084.1:p.Val327Ala | |
| ENST00000366683.3:c.746T>C | ENSP00000355644.3:p.Val249Ala | |
| ENST00000366684.7:c.1115T>C MANE Select | ENSP00000355645.3:p.Val372Ala | |
| NM_001100.3:c.1115T>C , LRG_429t1:c.1115T>C | NP_001091.1:p.Val372Ala | |
| NM_001100.4:c.1115T>C MANE Select | NP_001091.1:p.Val372Ala |