Linked Data
ClinVar Variation Id:
475019
dbSNP Id:
rs756198077
ExAC:
7:124482937 G / A
gnomAD v2:
7-124482937-G-A
gnomAD v3:
7-124842883-G-A
gnomAD v4:
7-124842883-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.124842883G>A , CM000669.2:g.124842883G>A | GRCh38 |
| NC_000007.13:g.124482937G>A , CM000669.1:g.124482937G>A | GRCh37 |
| NC_000007.12:g.124270173G>A | NCBI36 |
| NG_029232.1:g.92101C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357628.8:c.1087C>T MANE Select | ENSP00000350249.3:p.Arg363Ter | |
| ENST00000430927.6:c.1087C>T | ENSP00000397632.2:p.Arg363Ter | |
| ENST00000653241.1:c.1087C>T | ENSP00000499476.1:p.Arg363Ter | |
| ENST00000653274.1:c.1087C>T | ENSP00000499382.1:p.Arg363Ter | |
| ENST00000653819.1:c.*818C>T | ENSP00000499533.1:n.*818C>T | |
| ENST00000653892.1:c.*729C>T | ENSP00000499506.1:n.*729C>T | |
| ENST00000654766.1:c.1087C>T | ENSP00000499395.1:p.Arg363Ter | |
| ENST00000655761.1:c.1087C>T | ENSP00000499635.1:p.Arg363Ter | |
| ENST00000657333.1:c.*818C>T | ENSP00000499425.1:n.*818C>T | |
| ENST00000657892.1:c.*956C>T | ENSP00000499524.1:n.*956C>T | |
| ENST00000661898.1:c.1087C>T | ENSP00000499528.1:p.Arg363Ter | |
| ENST00000662531.1:c.*982C>T | ENSP00000499488.1:n.*982C>T | |
| ENST00000664330.1:c.*938C>T | ENSP00000499781.1:n.*938C>T | |
| ENST00000664366.1:c.1087C>T | ENSP00000499290.1:p.Arg363Ter | |
| ENST00000668382.1:c.1087C>T | ENSP00000499546.1:p.Arg363Ter | |
| ENST00000357628.7:c.1087C>T | ENSP00000350249.3:p.Arg363Ter | |
| ENST00000393329.5:c.694C>T | ENSP00000377002.1:p.Arg232Ter | |
| ENST00000466483.1:n.367C>T | ||
| ENST00000607932.5:c.1087C>T | ENSP00000476506.1:p.Arg363Ter | |
| ENST00000608057.5:c.*184C>T | ENSP00000476371.1:n.*184C>T | |
| ENST00000609106.5:c.1087C>T | ENSP00000476981.1:p.Arg363Ter | |
| NM_001042594.1:c.694C>T | NP_001036059.1:p.Arg232Ter | |
| NM_015450.2:c.1087C>T | NP_056265.2:p.Arg363Ter | |
| NR_003102.1:n.1808C>T | ||
| NR_003103.1:n.1688C>T | ||
| NR_003104.1:n.1688C>T | ||
| XM_006715917.2:c.1087C>T | XP_006715980.1:p.Arg363Ter | |
| XM_011516006.1:c.694C>T | XP_011514308.1:p.Arg232Ter | |
| XM_011516007.1:c.694C>T | XP_011514309.1:p.Arg232Ter | |
| XM_006715917.4:c.1087C>T | XP_006715980.1:p.Arg363Ter | |
| XM_017011942.2:c.694C>T | XP_016867431.1:p.Arg232Ter | |
| XR_001744618.1:n.1678C>T | ||
| XR_001744619.2:n.1547C>T | ||
| NM_015450.3:c.1087C>T MANE Select | NP_056265.2:p.Arg363Ter | |
| NM_001042594.2:c.694C>T | NP_001036059.1:p.Arg232Ter | |
| NR_003102.2:n.1650C>T | ||
| NR_003103.2:n.1530C>T | ||
| NR_003104.2:n.1530C>T |