Linked Data
ClinVar Variation Id:
189379
ClinVar RCV Id:
RCV000169776
dbSNP Id:
rs786204852
PubMed:
PMID:23683095
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39189694T>A , CM000666.2:g.39189694T>A | GRCh38 |
| NC_000004.11:g.39191314T>A , CM000666.1:g.39191314T>A | GRCh37 |
| NC_000004.10:g.38867709T>A | NCBI36 |
| NG_031813.1:g.12291T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.203T>A MANE Select | ENSP00000382717.3:p.Val68Asp | |
| ENST00000399820.7:c.203T>A | ENSP00000382717.3:p.Val68Asp | |
| ENST00000502389.1:n.230T>A | ||
| ENST00000503697.5:c.203T>A | ENSP00000423706.1:p.Val68Asp | |
| ENST00000505055.5:c.137T>A | ENSP00000425949.1:p.Val46Asp | |
| ENST00000506503.1:c.203T>A | ENSP00000423491.1:p.Val68Asp | |
| ENST00000506869.5:c.203T>A | ENSP00000424319.1:p.Val68Asp | |
| ENST00000509560.5:c.26T>A | ENSP00000426918.1:p.Val9Asp | |
| ENST00000511729.5:n.40+7131T>A | ||
| ENST00000512112.5:c.-162T>A | ENSP00000421888.1:n.-162T>A | |
| NM_025132.3:c.203T>A | NP_079408.3:p.Val68Asp | |
| XM_011513724.1:c.203T>A | XP_011512026.1:p.Val68Asp | |
| XM_011513725.1:c.137T>A | XP_011512027.1:p.Val46Asp | |
| XM_011513726.1:c.-162T>A | XP_011512028.1:n.-162T>A | |
| XM_011513727.1:c.-162T>A | XP_011512029.1:n.-162T>A | |
| XM_011513728.1:c.-162T>A | XP_011512030.1:n.-162T>A | |
| XM_011513729.1:c.203T>A | XP_011512031.1:p.Val68Asp | |
| XR_925155.1:n.267T>A | ||
| NM_001317924.1:c.-162T>A | NP_001304853.1:n.-162T>A | |
| XM_011513725.2:c.137T>A | XP_011512027.1:p.Val46Asp | |
| XM_011513726.3:c.-162T>A | XP_011512028.1:n.-162T>A | |
| XM_017008501.1:c.-162T>A | XP_016863990.1:n.-162T>A | |
| XR_001741306.1:n.267T>A | ||
| XR_001741307.1:n.267T>A | ||
| XR_001741308.1:n.267T>A | ||
| XR_001741309.1:n.267T>A | ||
| XR_001741310.1:n.267T>A | ||
| XR_001741311.2:n.232T>A | ||
| XR_001741312.1:n.267T>A | ||
| NM_025132.4:c.203T>A MANE Select | NP_079408.3:p.Val68Asp | |
| NM_001317924.2:c.-162T>A | NP_001304853.1:n.-162T>A |