Linked Data
ClinVar Variation Id:
417684
dbSNP Id:
rs184469579
ExAC:
1:40349142 G / A
gnomAD v2:
1-40349142-G-A
gnomAD v3:
1-39883470-G-A
gnomAD v4:
1-39883470-G-A
PubMed:
PMID:28185376
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.39883470G>A , CM000663.2:g.39883470G>A | GRCh38 |
| NC_000001.10:g.40349142G>A , CM000663.1:g.40349142G>A | GRCh37 |
| NC_000001.9:g.40121729G>A | NCBI36 |
| NG_042822.1:g.5042C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316891.10:c.22C>T MANE Select | ENSP00000321810.5:p.Arg8Ter | |
| ENST00000316891.9:c.22C>T | ENSP00000321810.5:p.Arg8Ter | |
| ENST00000372818.5:c.22C>T | ENSP00000361905.1:p.Arg8Ter | |
| ENST00000441669.6:c.22C>T | ENSP00000388333.2:p.Arg8Ter | |
| ENST00000462797.5:c.22C>T | ENSP00000473773.1:p.Arg8Ter | |
| ENST00000486825.6:c.6C>T | ||
| ENST00000489945.5:c.22C>T | ENSP00000473745.1:p.Arg8Ter | |
| ENST00000491865.5:n.11C>T | ||
| ENST00000492612.6:c.12C>T | ||
| ENST00000495175.6:c.22C>T | ENSP00000474264.1:p.Arg8Ter | |
| ENST00000537440.5:c.-778C>T | ENSP00000437700.1:n.-778C>T | |
| NM_001312691.1:c.22C>T | NP_001299620.1:p.Arg8Ter | |
| NM_001312692.1:c.22C>T | NP_001299621.1:p.Arg8Ter | |
| NM_017646.4:c.22C>T | NP_060116.2:p.Arg8Ter | |
| NM_017646.5:c.22C>T | NP_060116.2:p.Arg8Ter | |
| NR_132401.1:n.42C>T | ||
| NR_132402.1:n.42C>T | ||
| NR_132403.1:n.42C>T | ||
| NR_132404.1:n.42C>T | ||
| NR_132405.1:n.42C>T | ||
| NR_132406.1:n.42C>T | ||
| NR_132407.1:n.42C>T | ||
| NR_132408.1:n.42C>T | ||
| NR_132409.1:n.42C>T | ||
| NR_132410.1:n.42C>T | ||
| NR_132412.1:n.42C>T | ||
| NR_132413.1:n.42C>T | ||
| NR_132414.1:n.42C>T | ||
| NR_132415.1:n.42C>T | ||
| XM_006710706.1:c.-477C>T | XP_006710769.1:n.-477C>T | |
| XR_946672.1:n.42C>T | ||
| XR_946672.2:n.39C>T | ||
| NM_017646.6:c.22C>T MANE Select | NP_060116.2:p.Arg8Ter |