Linked Data
ClinVar Variation Id:
1617309
ClinVar RCV Id:
RCV002076505
dbSNP Id:
rs146740411
gnomAD v2:
1-120269489-G-T
gnomAD v4:
1-119726866-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119726866G>T , CM000663.2:g.119726866G>T | GRCh38 |
| NC_000001.10:g.120269489G>T , CM000663.1:g.120269489G>T | GRCh37 |
| NC_000001.9:g.120071012G>T | NCBI36 |
| NG_009188.1:g.20071G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369409.9:c.372G>T | ENSP00000358417.5:p.Ala124= | |
| ENST00000462324.2:n.455G>T | ||
| ENST00000641023.2:c.372G>T MANE Select | ENSP00000493175.1:p.Ala124= | |
| ENST00000641074.1:c.372G>T | ENSP00000493446.1:p.Ala124= | |
| ENST00000641115.1:c.372G>T | ENSP00000493264.1:p.Ala124= | |
| ENST00000641213.1:c.*25G>T | ENSP00000493079.1:n.*25G>T | |
| ENST00000641247.1:c.*91G>T | ENSP00000492955.1:n.*91G>T | |
| ENST00000641272.1:c.306G>T | ENSP00000493432.1:p.Ala102= | |
| ENST00000641314.1:n.357G>T | ||
| ENST00000641371.1:c.286G>T | ENSP00000493305.1:p.Asp96Tyr | |
| ENST00000641375.1:c.*208G>T | ENSP00000493089.1:n.*208G>T | |
| ENST00000641491.1:c.*25G>T | ENSP00000493187.1:n.*25G>T | |
| ENST00000641513.1:c.*116G>T | ENSP00000493398.1:n.*116G>T | |
| ENST00000641570.1:c.*91G>T | ENSP00000493213.1:n.*91G>T | |
| ENST00000641573.1:n.460G>T | ||
| ENST00000641587.1:c.*83G>T | ENSP00000493453.1:n.*83G>T | |
| ENST00000641597.1:c.372G>T | ENSP00000493382.1:p.Ala124= | |
| ENST00000641711.1:n.596G>T | ||
| ENST00000641756.1:c.*116G>T | ENSP00000493147.1:n.*116G>T | |
| ENST00000641811.1:c.128G>T | ||
| ENST00000641847.1:n.231G>T | ||
| ENST00000641891.1:c.*198G>T | ENSP00000493288.1:n.*198G>T | |
| ENST00000641927.1:n.312G>T | ||
| ENST00000641947.1:c.372G>T | ENSP00000492994.1:p.Ala124= | |
| ENST00000642021.1:n.494G>T | ||
| ENST00000642041.1:c.*411G>T | ENSP00000493415.1:n.*411G>T | |
| ENST00000369407.3:c.270G>T | ENSP00000358415.3:p.Ala90= | |
| ENST00000369409.8:c.372G>T | ENSP00000358417.4:p.Ala124= | |
| ENST00000462324.1:n.640G>T | ||
| ENST00000493622.5:n.561G>T | ||
| NM_006623.3:c.372G>T | NP_006614.2:p.Ala124= | |
| XM_011541226.1:c.594G>T | XP_011539528.1:p.Ala198= | |
| XM_011541227.1:c.516G>T | XP_011539529.1:p.Ala172= | |
| XM_011541228.1:c.483G>T | XP_011539530.1:p.Ala161= | |
| XM_011541229.1:c.309G>T | XP_011539531.1:p.Ala103= | |
| XM_011541230.1:c.87G>T | XP_011539532.1:p.Ala29= | |
| XM_011541231.1:c.78G>T | XP_011539533.1:p.Ala26= | |
| XM_011541226.2:c.594G>T | XP_011539528.1:p.Ala198= | |
| XM_011541227.2:c.516G>T | XP_011539529.1:p.Ala172= | |
| XM_011541228.2:c.483G>T | XP_011539530.1:p.Ala161= | |
| XM_011541231.2:c.78G>T | XP_011539533.1:p.Ala26= | |
| XM_024446338.1:c.483G>T | XP_024302106.1:p.Ala161= | |
| NM_006623.4:c.372G>T MANE Select | NP_006614.2:p.Ala124= |