Linked Data
ClinVar Variation Id:
2147128
ClinVar RCV Id:
RCV003077030
dbSNP Id:
rs552334665
ExAC:
4:39207281 G / A
gnomAD v2:
4-39207281-G-A
gnomAD v3:
4-39205661-G-A
gnomAD v4:
4-39205661-G-A
COSMIC:
COSM3765133
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39205661G>A , CM000666.2:g.39205661G>A | GRCh38 |
| NC_000004.11:g.39207281G>A , CM000666.1:g.39207281G>A | GRCh37 |
| NC_000004.10:g.38883676G>A | NCBI36 |
| NG_031813.1:g.28258G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.815G>A MANE Select | ENSP00000382717.3:p.Arg272His | |
| ENST00000399820.7:c.815G>A | ENSP00000382717.3:p.Arg272His | |
| ENST00000503697.5:c.*283G>A | ENSP00000423706.1:n.*283G>A | |
| ENST00000506503.1:c.815G>A | ENSP00000423491.1:p.Arg272His | |
| ENST00000506869.5:c.*396G>A | ENSP00000424319.1:n.*396G>A | |
| ENST00000511729.5:n.41-22897G>A | ||
| ENST00000512448.1:n.409G>A | ||
| NM_025132.3:c.815G>A | NP_079408.3:p.Arg272His | |
| XM_011513724.1:c.815G>A | XP_011512026.1:p.Arg272His | |
| XM_011513725.1:c.749G>A | XP_011512027.1:p.Arg250His | |
| XM_011513726.1:c.335G>A | XP_011512028.1:p.Arg112His | |
| XM_011513727.1:c.335G>A | XP_011512029.1:p.Arg112His | |
| XM_011513728.1:c.335G>A | XP_011512030.1:p.Arg112His | |
| XM_011513729.1:c.815G>A | XP_011512031.1:p.Arg272His | |
| XR_925155.1:n.879G>A | ||
| NM_001317924.1:c.335G>A | NP_001304853.1:p.Arg112His | |
| XM_011513725.2:c.749G>A | XP_011512027.1:p.Arg250His | |
| XM_011513726.3:c.335G>A | XP_011512028.1:p.Arg112His | |
| XM_017008501.1:c.335G>A | XP_016863990.1:p.Arg112His | |
| XR_001741306.1:n.879G>A | ||
| XR_001741307.1:n.879G>A | ||
| XR_001741308.1:n.879G>A | ||
| XR_001741309.1:n.879G>A | ||
| XR_001741310.1:n.879G>A | ||
| XR_001741311.2:n.728G>A | ||
| XR_001741312.1:n.879G>A | ||
| NM_025132.4:c.815G>A MANE Select | NP_079408.3:p.Arg272His | |
| NM_001317924.2:c.335G>A | NP_001304853.1:p.Arg112His |