Linked Data
ClinVar Variation Id:
348722
dbSNP Id:
rs150860929
ExAC:
4:39184163 G / T
gnomAD v2:
4-39184163-G-T
gnomAD v3:
4-39182543-G-T
gnomAD v4:
4-39182543-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39182543G>T , CM000666.2:g.39182543G>T | GRCh38 |
| NC_000004.11:g.39184163G>T , CM000666.1:g.39184163G>T | GRCh37 |
| NC_000004.10:g.38860558G>T | NCBI36 |
| NG_031813.1:g.5140G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.-15G>T MANE Select | ENSP00000382717.3:n.-15G>T | |
| ENST00000399820.7:c.-15G>T | ENSP00000382717.3:n.-15G>T | |
| ENST00000502389.1:n.13G>T | ||
| ENST00000503697.5:c.-15G>T | ENSP00000423706.1:n.-15G>T | |
| ENST00000505055.5:c.-15G>T | ENSP00000425949.1:n.-15G>T | |
| ENST00000506869.5:c.-15G>T | ENSP00000424319.1:n.-15G>T | |
| ENST00000509560.5:c.-100G>T | ENSP00000426918.1:n.-100G>T | |
| ENST00000511729.5:n.20G>T | ||
| ENST00000512112.5:c.-287G>T | ENSP00000421888.1:n.-287G>T | |
| NM_025132.3:c.-15G>T | NP_079408.3:n.-15G>T | |
| XM_011513724.1:c.-15G>T | XP_011512026.1:n.-15G>T | |
| XM_011513725.1:c.-15G>T | XP_011512027.1:n.-15G>T | |
| XM_011513726.1:c.-379G>T | XP_011512028.1:n.-379G>T | |
| XM_011513727.1:c.-313G>T | XP_011512029.1:n.-313G>T | |
| XM_011513728.1:c.-379G>T | XP_011512030.1:n.-379G>T | |
| XM_011513729.1:c.-15G>T | XP_011512031.1:n.-15G>T | |
| XR_925155.1:n.50G>T | ||
| NM_001317924.1:c.-379G>T | NP_001304853.1:n.-379G>T | |
| XM_011513725.2:c.-15G>T | XP_011512027.1:n.-15G>T | |
| XM_011513726.3:c.-379G>T | XP_011512028.1:n.-379G>T | |
| XM_017008501.1:c.-313G>T | XP_016863990.1:n.-313G>T | |
| XR_001741306.1:n.50G>T | ||
| XR_001741307.1:n.50G>T | ||
| XR_001741308.1:n.50G>T | ||
| XR_001741309.1:n.50G>T | ||
| XR_001741310.1:n.50G>T | ||
| XR_001741311.2:n.15G>T | ||
| XR_001741312.1:n.50G>T | ||
| NM_025132.4:c.-15G>T MANE Select | NP_079408.3:n.-15G>T | |
| NM_001317924.2:c.-379G>T | NP_001304853.1:n.-379G>T |