Linked Data
dbSNP Id:
rs960197189
gnomAD v2:
1-120269230-T-C
gnomAD v3:
1-119726607-T-C
gnomAD v4:
1-119726607-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119726607T>C , CM000663.2:g.119726607T>C | GRCh38 |
| NC_000001.10:g.120269230T>C , CM000663.1:g.120269230T>C | GRCh37 |
| NC_000001.9:g.120070753T>C | NCBI36 |
| NG_009188.1:g.19812T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369409.9:c.357-244T>C | ENSP00000358417.5:n.357-244T>C | |
| ENST00000462324.2:n.440-244T>C | ||
| ENST00000641023.2:c.357-244T>C MANE Select | ENSP00000493175.1:n.357-244T>C | |
| ENST00000641074.1:c.357-244T>C | ENSP00000493446.1:n.357-244T>C | |
| ENST00000641115.1:c.357-244T>C | ENSP00000493264.1:n.357-244T>C | |
| ENST00000641213.1:c.*10-244T>C | ENSP00000493079.1:n.*10-244T>C | |
| ENST00000641247.1:c.*76-244T>C | ENSP00000492955.1:n.*76-244T>C | |
| ENST00000641272.1:c.291-244T>C | ENSP00000493432.1:n.291-244T>C | |
| ENST00000641314.1:n.342-244T>C | ||
| ENST00000641371.1:c.271-244T>C | ENSP00000493305.1:n.271-244T>C | |
| ENST00000641375.1:c.*193-244T>C | ENSP00000493089.1:n.*193-244T>C | |
| ENST00000641491.1:c.*10-244T>C | ENSP00000493187.1:n.*10-244T>C | |
| ENST00000641513.1:c.*101-244T>C | ENSP00000493398.1:n.*101-244T>C | |
| ENST00000641570.1:c.*76-244T>C | ENSP00000493213.1:n.*76-244T>C | |
| ENST00000641573.1:n.445-244T>C | ||
| ENST00000641587.1:c.*68-244T>C | ENSP00000493453.1:n.*68-244T>C | |
| ENST00000641597.1:c.357-244T>C | ENSP00000493382.1:n.357-244T>C | |
| ENST00000641711.1:n.581-244T>C | ||
| ENST00000641756.1:c.*101-244T>C | ENSP00000493147.1:n.*101-244T>C | |
| ENST00000641811.1:c.113-244T>C | ||
| ENST00000641891.1:c.*183-244T>C | ENSP00000493288.1:n.*183-244T>C | |
| ENST00000641927.1:n.297-244T>C | ||
| ENST00000641947.1:c.357-244T>C | ENSP00000492994.1:n.357-244T>C | |
| ENST00000642021.1:n.479-244T>C | ||
| ENST00000642041.1:c.*396-244T>C | ENSP00000493415.1:n.*396-244T>C | |
| ENST00000369407.3:c.255-244T>C | ENSP00000358415.3:n.255-244T>C | |
| ENST00000369409.8:c.357-244T>C | ENSP00000358417.4:n.357-244T>C | |
| ENST00000462324.1:n.625-244T>C | ||
| ENST00000493622.5:n.546-244T>C | ||
| NM_006623.3:c.357-244T>C | NP_006614.2:n.357-244T>C | |
| XM_011541226.1:c.579-244T>C | XP_011539528.1:n.579-244T>C | |
| XM_011541227.1:c.501-244T>C | XP_011539529.1:n.501-244T>C | |
| XM_011541228.1:c.468-244T>C | XP_011539530.1:n.468-244T>C | |
| XM_011541229.1:c.294-244T>C | XP_011539531.1:n.294-244T>C | |
| XM_011541230.1:c.72-244T>C | XP_011539532.1:n.72-244T>C | |
| XM_011541231.1:c.63-244T>C | XP_011539533.1:n.63-244T>C | |
| XM_011541226.2:c.579-244T>C | XP_011539528.1:n.579-244T>C | |
| XM_011541227.2:c.501-244T>C | XP_011539529.1:n.501-244T>C | |
| XM_011541228.2:c.468-244T>C | XP_011539530.1:n.468-244T>C | |
| XM_011541231.2:c.63-244T>C | XP_011539533.1:n.63-244T>C | |
| XM_024446338.1:c.468-244T>C | XP_024302106.1:n.468-244T>C | |
| NM_006623.4:c.357-244T>C MANE Select | NP_006614.2:n.357-244T>C |