Linked Data
ClinVar Variation Id:
31838
dbSNP Id:
rs11944325
ExAC:
4:186435443 C / T
gnomAD v2:
4-186435443-C-T
gnomAD v3:
4-185514289-C-T
gnomAD v4:
4-185514289-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185514289C>T , CM000666.2:g.185514289C>T | GRCh38 |
| NC_000004.11:g.186435443C>T , CM000666.1:g.186435443C>T | GRCh37 |
| NC_000004.10:g.186672437C>T | NCBI36 |
| NG_032576.2:g.26270G>A | |
| NG_032576.3:g.26270G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284767.12:c.379G>A MANE Select | ENSP00000284767.8:p.Val127Met | |
| ENST00000284770.10:c.142G>A | ENSP00000284770.5:p.Val48Met | |
| ENST00000284771.7:c.518+414G>A | ENSP00000284771.6:n.518+414G>A | |
| ENST00000620787.5:c.379G>A | ENSP00000481771.2:p.Val127Met | |
| ENST00000643009.1:c.367G>A | ENSP00000495411.1:p.Val123Met | |
| ENST00000284767.9:c.379G>A | ENSP00000284767.6:p.Val127Met | |
| ENST00000284770.9:c.379G>A | ENSP00000284770.4:p.Val127Met | |
| ENST00000284771.6:c.518+414G>A | ENSP00000284771.6:n.518+414G>A | |
| ENST00000504011.5:n.624G>A | ||
| ENST00000504355.5:n.367G>A | ||
| ENST00000505886.5:c.*237+414G>A | ENSP00000425138.1:n.*237+414G>A | |
| ENST00000512293.1:c.*98G>A | ENSP00000421972.1:n.*98G>A | |
| ENST00000514142.5:n.3429G>A | ||
| ENST00000620787.4:c.142G>A | ENSP00000481771.1:p.Val48Met | |
| ENST00000629667.2:c.*98G>A | ENSP00000486107.1:n.*98G>A | |
| NM_001114107.4:c.518+414G>A | NP_001107579.1:n.518+414G>A | |
| NM_001257962.1:c.379G>A | NP_001244891.1:p.Val127Met | |
| NM_001257963.1:c.142G>A | NP_001244892.1:p.Val48Met | |
| NM_014476.5:c.379G>A | NP_055291.2:p.Val127Met | |
| NR_047562.1:n.455-7637G>A | ||
| XM_011531874.1:c.567G>A | XP_011530176.1:p.Ser189= | |
| XR_938723.1:n.740G>A | ||
| XR_938724.1:n.740G>A | ||
| XR_001741206.2:n.640G>A | ||
| XR_938723.3:n.640G>A | ||
| XR_938724.3:n.640G>A | ||
| NM_001114107.5:c.518+414G>A | NP_001107579.1:n.518+414G>A | |
| NM_014476.6:c.379G>A MANE Select | NP_055291.2:p.Val127Met | |
| NM_001257962.2:c.379G>A | NP_001244891.1:p.Val127Met | |
| NM_001257963.2:c.142G>A | NP_001244892.1:p.Val48Met | |
| NR_047562.2:n.404-7637G>A |