Linked Data
ClinVar Variation Id:
2144188
dbSNP Id:
rs764730449
ExAC:
3:195778941 G / A
gnomAD v2:
3-195778941-G-A
gnomAD v3:
3-196052070-G-A
gnomAD v4:
3-196052070-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196052070G>A , CM000665.2:g.196052070G>A | GRCh38 |
| NC_000003.11:g.195778941G>A , CM000665.1:g.195778941G>A | GRCh37 |
| NC_000003.10:g.197263338G>A | NCBI36 |
| NG_046395.1:g.35092C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426789.6:n.2111+1348C>T | ||
| ENST00000475593.6:n.3803C>T | ||
| ENST00000477148.2:n.3595C>T | ||
| ENST00000483983.6:n.1161C>T | ||
| ENST00000491658.2:n.2343C>T | ||
| ENST00000698274.1:c.2040+1348C>T | ENSP00000513645.1:n.2040+1348C>T | |
| ENST00000698275.1:n.2216+1348C>T | ||
| ENST00000698276.1:n.1037C>T | ||
| ENST00000698277.1:n.1845C>T | ||
| ENST00000698278.1:n.1674C>T | ||
| ENST00000698279.1:n.1650C>T | ||
| ENST00000698280.1:c.2155C>T | ENSP00000513646.1:p.Arg719Cys | |
| ENST00000698281.1:c.*1818C>T | ENSP00000513647.1:n.*1818C>T | |
| ENST00000698282.1:c.*1404C>T | ENSP00000513648.1:n.*1404C>T | |
| ENST00000698283.1:c.2260C>T | ENSP00000513649.1:p.Arg754Cys | |
| ENST00000698284.1:n.2503C>T | ||
| ENST00000698285.1:c.1309C>T | ENSP00000513650.1:p.Arg437Cys | |
| ENST00000698286.1:c.1309C>T | ENSP00000513651.1:p.Arg437Cys | |
| ENST00000698287.1:n.2646C>T | ||
| ENST00000698288.1:c.*1404C>T | ENSP00000513652.1:n.*1404C>T | |
| ENST00000698289.1:n.3218C>T | ||
| ENST00000698290.1:c.1933C>T | ENSP00000513653.1:p.Arg645Cys | |
| ENST00000698291.1:c.2155C>T | ENSP00000513654.1:p.Arg719Cys | |
| ENST00000698292.1:n.4090C>T | ||
| ENST00000698293.1:n.2497C>T | ||
| ENST00000698294.1:c.1494C>T | ||
| ENST00000360110.9:c.2155C>T MANE Select | ENSP00000353224.4:p.Arg719Cys | |
| ENST00000360110.8:c.2155C>T | ENSP00000353224.4:p.Arg719Cys | |
| ENST00000392396.7:c.2155C>T | ENSP00000376197.3:p.Arg719Cys | |
| ENST00000420415.5:c.1912C>T | ENSP00000390133.1:p.Arg638Cys | |
| ENST00000426789.5:c.276+1348C>T | ENSP00000414015.1:n.276+1348C>T | |
| NM_001128148.1:c.2155C>T | NP_001121620.1:p.Arg719Cys | |
| NM_001128148.2:c.2155C>T | NP_001121620.1:p.Arg719Cys | |
| NM_001313965.1:c.1912C>T | NP_001300894.1:p.Arg638Cys | |
| NM_001313966.1:c.1309C>T | NP_001300895.1:p.Arg437Cys | |
| NM_003234.2:c.2155C>T | NP_003225.2:p.Arg719Cys | |
| NM_003234.3:c.2155C>T | NP_003225.2:p.Arg719Cys | |
| XM_024453731.1:c.2040+1348C>T | XP_024309499.1:n.2040+1348C>T | |
| XM_024453732.1:c.2040+1348C>T | XP_024309500.1:n.2040+1348C>T | |
| XR_002959575.1:n.2144+1348C>T | ||
| XR_002959576.1:n.2144+1348C>T | ||
| XR_002959577.1:n.2144+1348C>T | ||
| XR_002959578.1:n.2144+1348C>T | ||
| NM_001128148.3:c.2155C>T MANE Select | NP_001121620.1:p.Arg719Cys | |
| NM_001313965.2:c.1912C>T | NP_001300894.1:p.Arg638Cys | |
| NM_001313966.2:c.1309C>T | NP_001300895.1:p.Arg437Cys | |
| NM_003234.4:c.2155C>T | NP_003225.2:p.Arg719Cys |