Linked Data
dbSNP Id:
rs764803957
ExAC:
2:88874615 C / T
gnomAD v2:
2-88874615-C-T
gnomAD v3:
2-88575097-C-T
gnomAD v4:
2-88575097-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88575097C>T , CM000664.2:g.88575097C>T | GRCh38 |
| NC_000002.11:g.88874615C>T , CM000664.1:g.88874615C>T | GRCh37 |
| NC_000002.10:g.88655730C>T | NCBI36 |
| NG_016424.1:g.57480G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478003.2:n.2214G>A | ||
| ENST00000682276.1:n.1831G>A | ||
| ENST00000682892.1:c.1933G>A | ENSP00000507214.1:p.Val645Ile | |
| ENST00000682952.1:n.2025G>A | ||
| ENST00000684455.1:c.1599G>A | ||
| ENST00000684642.1:c.1783G>A | ENSP00000507355.1:p.Val595Ile | |
| ENST00000684740.1:n.2564G>A | ||
| ENST00000303236.9:c.2386G>A MANE Select | ENSP00000307235.3:p.Val796Ile | |
| ENST00000652099.1:c.2580G>A | ||
| ENST00000652736.1:n.2262G>A | ||
| ENST00000303236.7:c.2386G>A | ENSP00000307235.3:p.Val796Ile | |
| ENST00000415570.1:c.2023G>A | ENSP00000412076.1:p.Val675Ile | |
| ENST00000419748.5:c.1933G>A | ENSP00000408325.1:p.Val645Ile | |
| ENST00000470706.1:n.49-20G>A | ||
| NM_001313915.1:c.1933G>A | NP_001300844.1:p.Val645Ile | |
| NM_004836.5:c.2386G>A | NP_004827.4:p.Val796Ile | |
| NM_004836.6:c.2386G>A | NP_004827.4:p.Val796Ile | |
| NR_110236.1:n.1234C>T | ||
| XM_005264649.3:c.1702G>A | XP_005264706.1:p.Val568Ile | |
| XM_017005376.2:c.1702G>A | XP_016860865.1:p.Val568Ile | |
| NM_004836.7:c.2386G>A MANE Select | NP_004827.4:p.Val796Ile | |
| NM_001313915.2:c.1933G>A | NP_001300844.1:p.Val645Ile |