Linked Data
ClinVar Variation Id:
127156
ClinVar RCV Id:
RCV000115012
dbSNP Id:
rs587777350
gnomAD v4:
4-39205232-C-T
PubMed:
PMID:23559409
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39205232C>T , CM000666.2:g.39205232C>T | GRCh38 |
| NC_000004.11:g.39206852C>T , CM000666.1:g.39206852C>T | GRCh37 |
| NC_000004.10:g.38883247C>T | NCBI36 |
| NG_031813.1:g.27829C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.682C>T MANE Select | ENSP00000382717.3:p.Gln228Ter | |
| ENST00000399820.7:c.682C>T | ENSP00000382717.3:p.Gln228Ter | |
| ENST00000503697.5:c.*150C>T | ENSP00000423706.1:n.*150C>T | |
| ENST00000505055.5:c.*263C>T | ENSP00000425949.1:n.*263C>T | |
| ENST00000506503.1:c.682C>T | ENSP00000423491.1:p.Gln228Ter | |
| ENST00000506869.5:c.*263C>T | ENSP00000424319.1:n.*263C>T | |
| ENST00000511729.5:n.40+22669C>T | ||
| ENST00000512448.1:n.276C>T | ||
| NM_025132.3:c.682C>T | NP_079408.3:p.Gln228Ter | |
| XM_011513724.1:c.682C>T | XP_011512026.1:p.Gln228Ter | |
| XM_011513725.1:c.616C>T | XP_011512027.1:p.Gln206Ter | |
| XM_011513726.1:c.202C>T | XP_011512028.1:p.Gln68Ter | |
| XM_011513727.1:c.202C>T | XP_011512029.1:p.Gln68Ter | |
| XM_011513728.1:c.202C>T | XP_011512030.1:p.Gln68Ter | |
| XM_011513729.1:c.682C>T | XP_011512031.1:p.Gln228Ter | |
| XR_925155.1:n.746C>T | ||
| NM_001317924.1:c.202C>T | NP_001304853.1:p.Gln68Ter | |
| XM_011513725.2:c.616C>T | XP_011512027.1:p.Gln206Ter | |
| XM_011513726.3:c.202C>T | XP_011512028.1:p.Gln68Ter | |
| XM_017008501.1:c.202C>T | XP_016863990.1:p.Gln68Ter | |
| XR_001741306.1:n.746C>T | ||
| XR_001741307.1:n.746C>T | ||
| XR_001741308.1:n.746C>T | ||
| XR_001741309.1:n.746C>T | ||
| XR_001741310.1:n.746C>T | ||
| XR_001741311.2:n.595C>T | ||
| XR_001741312.1:n.746C>T | ||
| NM_025132.4:c.682C>T MANE Select | NP_079408.3:p.Gln228Ter | |
| NM_001317924.2:c.202C>T | NP_001304853.1:p.Gln68Ter |