Linked Data
ClinVar Variation Id:
372197
dbSNP Id:
rs766294940
ExAC:
2:3598048 C / T
gnomAD v2:
2-3598048-C-T
gnomAD v3:
2-3550458-C-T
gnomAD v4:
2-3550458-C-T
PubMed:
PMID:26094573
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.3550458C>T , CM000664.2:g.3550458C>T | GRCh38 |
| NC_000002.11:g.3598048C>T , CM000664.1:g.3598048C>T | GRCh37 |
| NC_000002.10:g.3575923C>T | NCBI36 |
| NG_051310.1:g.12914G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315212.4:c.424G>A MANE Select | ENSP00000313350.3:p.Val142Ile | |
| ENST00000654051.1:c.424G>A | ENSP00000499604.1:p.Val142Ile | |
| ENST00000658393.1:c.424G>A | ENSP00000499330.1:p.Val142Ile | |
| ENST00000315212.3:c.424G>A | ENSP00000313350.3:p.Val142Ile | |
| ENST00000436842.5:c.*530G>A | ENSP00000404926.1:n.*530G>A | |
| ENST00000454734.1:c.*461G>A | ENSP00000411646.1:n.*461G>A | |
| ENST00000464986.5:n.180G>A | ||
| NM_001286834.1:c.346G>A | NP_001273763.1:p.Val116Ile | |
| NM_001286837.1:c.73G>A | NP_001273766.1:p.Val25Ile | |
| NM_002936.4:c.424G>A | NP_002927.2:p.Val142Ile | |
| XR_244873.1:n.531G>A | ||
| XR_922665.1:n.531G>A | ||
| XR_922666.1:n.531G>A | ||
| XR_922667.1:n.531G>A | ||
| XR_922668.1:n.531G>A | ||
| XR_922669.1:n.531G>A | ||
| XR_922670.1:n.531G>A | ||
| XR_922671.1:n.531G>A | ||
| XR_922672.1:n.531G>A | ||
| XR_922673.1:n.531G>A | ||
| XR_922674.1:n.531G>A | ||
| NM_001286834.2:c.346G>A | NP_001273763.1:p.Val116Ile | |
| NM_001286837.2:c.73G>A | NP_001273766.1:p.Val25Ile | |
| NM_002936.5:c.424G>A | NP_002927.2:p.Val142Ile | |
| NR_148532.1:n.535G>A | ||
| NR_148533.1:n.535G>A | ||
| NR_148534.1:n.535G>A | ||
| NM_001286837.3:c.73G>A | NP_001273766.1:p.Val25Ile | |
| NR_148532.2:n.497G>A | ||
| NR_148533.2:n.497G>A | ||
| NR_148534.2:n.497G>A | ||
| NM_001286834.3:c.346G>A | NP_001273763.1:p.Val116Ile | |
| NM_001378271.1:c.424G>A | NP_001365200.1:p.Val142Ile | |
| NM_001378272.1:c.421G>A | NP_001365201.1:p.Val141Ile | |
| NM_001378273.1:c.424G>A | NP_001365202.1:p.Val142Ile | |
| NM_002936.6:c.424G>A MANE Select | NP_002927.2:p.Val142Ile | |
| NR_165465.1:n.381G>A | ||
| NR_165466.1:n.497G>A | ||
| NR_165467.1:n.666G>A | ||
| NR_165468.1:n.469G>A |