Linked Data
ClinVar Variation Id:
1672118
ClinVar RCV Id:
RCV002208255
dbSNP Id:
rs762922421
ExAC:
1:120269466 C / T
gnomAD v2:
1-120269466-C-T
gnomAD v4:
1-119726843-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119726843C>T , CM000663.2:g.119726843C>T | GRCh38 |
| NC_000001.10:g.120269466C>T , CM000663.1:g.120269466C>T | GRCh37 |
| NC_000001.9:g.120070989C>T | NCBI36 |
| NG_009188.1:g.20048C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369409.9:c.357-8C>T | ENSP00000358417.5:n.357-8C>T | |
| ENST00000462324.2:n.440-8C>T | ||
| ENST00000641023.2:c.357-8C>T MANE Select | ENSP00000493175.1:n.357-8C>T | |
| ENST00000641074.1:c.357-8C>T | ENSP00000493446.1:n.357-8C>T | |
| ENST00000641115.1:c.357-8C>T | ENSP00000493264.1:n.357-8C>T | |
| ENST00000641213.1:c.*10-8C>T | ENSP00000493079.1:n.*10-8C>T | |
| ENST00000641247.1:c.*76-8C>T | ENSP00000492955.1:n.*76-8C>T | |
| ENST00000641272.1:c.291-8C>T | ENSP00000493432.1:n.291-8C>T | |
| ENST00000641314.1:n.342-8C>T | ||
| ENST00000641371.1:c.271-8C>T | ENSP00000493305.1:n.271-8C>T | |
| ENST00000641375.1:c.*193-8C>T | ENSP00000493089.1:n.*193-8C>T | |
| ENST00000641491.1:c.*10-8C>T | ENSP00000493187.1:n.*10-8C>T | |
| ENST00000641513.1:c.*101-8C>T | ENSP00000493398.1:n.*101-8C>T | |
| ENST00000641570.1:c.*76-8C>T | ENSP00000493213.1:n.*76-8C>T | |
| ENST00000641573.1:n.445-8C>T | ||
| ENST00000641587.1:c.*68-8C>T | ENSP00000493453.1:n.*68-8C>T | |
| ENST00000641597.1:c.357-8C>T | ENSP00000493382.1:n.357-8C>T | |
| ENST00000641711.1:n.581-8C>T | ||
| ENST00000641756.1:c.*101-8C>T | ENSP00000493147.1:n.*101-8C>T | |
| ENST00000641811.1:c.113-8C>T | ||
| ENST00000641847.1:n.208C>T | ||
| ENST00000641891.1:c.*183-8C>T | ENSP00000493288.1:n.*183-8C>T | |
| ENST00000641927.1:n.297-8C>T | ||
| ENST00000641947.1:c.357-8C>T | ENSP00000492994.1:n.357-8C>T | |
| ENST00000642021.1:n.479-8C>T | ||
| ENST00000642041.1:c.*396-8C>T | ENSP00000493415.1:n.*396-8C>T | |
| ENST00000369407.3:c.255-8C>T | ENSP00000358415.3:n.255-8C>T | |
| ENST00000369409.8:c.357-8C>T | ENSP00000358417.4:n.357-8C>T | |
| ENST00000462324.1:n.625-8C>T | ||
| ENST00000493622.5:n.546-8C>T | ||
| NM_006623.3:c.357-8C>T | NP_006614.2:n.357-8C>T | |
| XM_011541226.1:c.579-8C>T | XP_011539528.1:n.579-8C>T | |
| XM_011541227.1:c.501-8C>T | XP_011539529.1:n.501-8C>T | |
| XM_011541228.1:c.468-8C>T | XP_011539530.1:n.468-8C>T | |
| XM_011541229.1:c.294-8C>T | XP_011539531.1:n.294-8C>T | |
| XM_011541230.1:c.72-8C>T | XP_011539532.1:n.72-8C>T | |
| XM_011541231.1:c.63-8C>T | XP_011539533.1:n.63-8C>T | |
| XM_011541226.2:c.579-8C>T | XP_011539528.1:n.579-8C>T | |
| XM_011541227.2:c.501-8C>T | XP_011539529.1:n.501-8C>T | |
| XM_011541228.2:c.468-8C>T | XP_011539530.1:n.468-8C>T | |
| XM_011541231.2:c.63-8C>T | XP_011539533.1:n.63-8C>T | |
| XM_024446338.1:c.468-8C>T | XP_024302106.1:n.468-8C>T | |
| NM_006623.4:c.357-8C>T MANE Select | NP_006614.2:n.357-8C>T |