Linked Data
ClinVar Variation Id:
451704
dbSNP Id:
rs371188899
ExAC:
3:49759418 G / A
gnomAD v2:
3-49759418-G-A
gnomAD v3:
3-49721985-G-A
gnomAD v4:
3-49721985-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49721985G>A , CM000665.2:g.49721985G>A | GRCh38 |
| NC_000003.11:g.49759418G>A , CM000665.1:g.49759418G>A | GRCh37 |
| NC_000003.10:g.49734422G>A | NCBI36 |
| NG_011603.1:g.37429G>A | |
| NG_033731.1:g.6990C>T | |
| NG_033731.2:g.6990C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308388.7:c.931C>T MANE Select | ENSP00000311130.6:p.Arg311Cys | |
| ENST00000481959.2:n.1504C>T | ||
| ENST00000495627.2:c.1039C>T | ENSP00000503768.1:p.Arg347Cys | |
| ENST00000677393.1:c.724C>T | ENSP00000503880.1:p.Arg242Cys | |
| ENST00000678010.1:c.565C>T | ENSP00000503176.1:p.Arg189Cys | |
| ENST00000678208.1:n.1365C>T | ||
| ENST00000678853.1:c.*222C>T | ENSP00000504692.1:n.*222C>T | |
| ENST00000308375.10:c.931C>T | ENSP00000309092.6:p.Arg311Cys | |
| ENST00000308388.6:c.931C>T | ENSP00000311130.6:p.Arg311Cys | |
| ENST00000480687.5:c.931C>T | ENSP00000418565.1:p.Arg311Cys | |
| NM_013334.3:c.931C>T | NP_037466.2:p.Arg311Cys | |
| NM_021971.2:c.931C>T | NP_068806.1:p.Arg311Cys | |
| NM_021971.4:c.931C>T MANE Select | NP_068806.2:p.Arg311Cys | |
| NM_013334.4:c.931C>T | NP_037466.3:p.Arg311Cys |