Linked Data
ClinVar Variation Id:
1389139
dbSNP Id:
rs770091572
ExAC:
4:39246159 C / T
gnomAD v2:
4-39246159-C-T
gnomAD v3:
4-39244539-C-T
gnomAD v4:
4-39244539-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39244539C>T , CM000666.2:g.39244539C>T | GRCh38 |
| NC_000004.11:g.39246159C>T , CM000666.1:g.39246159C>T | GRCh37 |
| NC_000004.10:g.38922554C>T | NCBI36 |
| NG_031813.1:g.67136C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.2632C>T MANE Select | ENSP00000382717.3:p.Arg878Cys | |
| ENST00000399820.7:c.2632C>T | ENSP00000382717.3:p.Arg878Cys | |
| ENST00000506869.5:c.*2213C>T | ENSP00000424319.1:n.*2213C>T | |
| ENST00000512095.5:n.1630C>T | ||
| NM_025132.3:c.2632C>T | NP_079408.3:p.Arg878Cys | |
| XM_011513724.1:c.2644C>T | XP_011512026.1:p.Arg882Cys | |
| XM_011513725.1:c.2578C>T | XP_011512027.1:p.Arg860Cys | |
| XM_011513726.1:c.2164C>T | XP_011512028.1:p.Arg722Cys | |
| XM_011513727.1:c.2164C>T | XP_011512029.1:p.Arg722Cys | |
| XM_011513728.1:c.2152C>T | XP_011512030.1:p.Arg718Cys | |
| XM_011513729.1:c.2644C>T | XP_011512031.1:p.Arg882Cys | |
| XR_925155.1:n.2708C>T | ||
| NM_001317924.1:c.2152C>T | NP_001304853.1:p.Arg718Cys | |
| XM_011513725.2:c.2578C>T | XP_011512027.1:p.Arg860Cys | |
| XM_011513726.3:c.2164C>T | XP_011512028.1:p.Arg722Cys | |
| XM_017008501.1:c.2152C>T | XP_016863990.1:p.Arg718Cys | |
| XR_001741306.1:n.2708C>T | ||
| XR_001741307.1:n.2696C>T | ||
| XR_001741308.1:n.2708C>T | ||
| XR_001741309.1:n.2696C>T | ||
| XR_001741310.1:n.2696C>T | ||
| XR_001741311.2:n.2545C>T | ||
| NM_025132.4:c.2632C>T MANE Select | NP_079408.3:p.Arg878Cys | |
| NM_001317924.2:c.2152C>T | NP_001304853.1:p.Arg718Cys |