Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420556C>T , CM000666.2:g.99420556C>T | GRCh38 |
| NC_000004.11:g.100341713C>T , CM000666.1:g.100341713C>T | GRCh37 |
| NC_000004.10:g.100560736C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.802G>A MANE Select | ENSP00000414254.2:p.Val268Ile | |
| ENST00000209665.8:c.838G>A | ENSP00000209665.4:p.Val280Ile | |
| ENST00000437033.6:c.802G>A | ENSP00000414254.2:p.Val268Ile | |
| ENST00000476959.5:c.862G>A | ENSP00000420269.1:p.Val288Ile | |
| ENST00000482593.5:c.631G>A | ENSP00000420613.1:p.Val211Ile | |
| NM_000673.4:c.838G>A | NP_000664.2:p.Val280Ile | |
| NM_001166504.1:c.862G>A | NP_001159976.1:p.Val288Ile | |
| NM_000673.7:c.802G>A MANE Select | NP_000664.3:p.Val268Ile | |
| NM_001166504.2:c.862G>A | NP_001159976.1:p.Val288Ile |