Linked Data
ClinVar Variation Id:
1171063
dbSNP Id:
rs1002588450
gnomAD v2:
7-150647271-C-T
gnomAD v3:
7-150950183-C-T
gnomAD v4:
7-150950183-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150950183C>T , CM000669.2:g.150950183C>T | GRCh38 |
| NC_000007.13:g.150647271C>T , CM000669.1:g.150647271C>T | GRCh37 |
| NC_000007.12:g.150278204C>T | NCBI36 |
| NG_008916.1:g.32744G>A , LRG_288:g.32744G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1681G>A | ||
| ENST00000684241.1:n.3216G>A | ||
| ENST00000262186.10:c.2383G>A MANE Select | ENSP00000262186.5:p.Val795Ile | |
| ENST00000330883.9:c.1363G>A | ENSP00000328531.4:p.Val455Ile | |
| ENST00000262186.9:c.2383G>A | ENSP00000262186.5:p.Val795Ile | |
| ENST00000330883.8:c.1363G>A | ENSP00000328531.4:p.Val455Ile | |
| ENST00000430723.4:c.2035G>A | ENSP00000387657.4:p.Val679Ile | |
| ENST00000461280.1:n.1670G>A | ||
| ENST00000473610.5:n.2015G>A | ||
| ENST00000532957.5:n.2606G>A | ||
| NM_000238.3:c.2383G>A , LRG_288t1:c.2383G>A | NP_000229.1:p.Val795Ile | |
| NM_001204798.1:c.1363G>A | NP_001191727.1:p.Val455Ile | |
| NM_172056.2:c.2383G>A , LRG_288t2:c.2383G>A | NP_742053.1:p.Val795Ile | |
| NM_172057.2:c.1363G>A , LRG_288t3:c.1363G>A | NP_742054.1:p.Val455Ile | |
| XM_011516185.1:c.2083G>A | XP_011514487.1:p.Val695Ile | |
| XM_011516186.1:c.2383G>A | XP_011514488.1:p.Val795Ile | |
| XM_011516185.2:c.2083G>A | XP_011514487.1:p.Val695Ile | |
| XM_011516186.3:c.2383G>A | XP_011514488.1:p.Val795Ile | |
| XM_017012195.1:c.2233G>A | XP_016867684.1:p.Val745Ile | |
| XM_017012196.1:c.2206G>A | XP_016867685.1:p.Val736Ile | |
| NM_000238.4:c.2383G>A MANE Select | NP_000229.1:p.Val795Ile | |
| NM_001204798.2:c.1363G>A | NP_001191727.1:p.Val455Ile | |
| NM_172057.3:c.1363G>A | NP_742054.1:p.Val455Ile |