Linked Data
ClinVar Variation Id:
225926
dbSNP Id:
rs875989850
gnomAD v2:
3-49759672-C-T
gnomAD v3:
3-49722239-C-T
gnomAD v4:
3-49722239-C-T
PubMed:
PMID:26133662
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49722239C>T , CM000665.2:g.49722239C>T | GRCh38 |
| NC_000003.11:g.49759672C>T , CM000665.1:g.49759672C>T | GRCh37 |
| NC_000003.10:g.49734676C>T | NCBI36 |
| NG_011603.1:g.37683C>T | |
| NG_033731.1:g.6736G>A | |
| NG_033731.2:g.6736G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308388.7:c.760G>A MANE Select | ENSP00000311130.6:p.Val254Met | |
| ENST00000481959.2:n.1333G>A | ||
| ENST00000495627.2:c.868G>A | ENSP00000503768.1:p.Val290Met | |
| ENST00000677393.1:c.562-92G>A | ENSP00000503880.1:n.562-92G>A | |
| ENST00000678010.1:c.403-92G>A | ENSP00000503176.1:n.403-92G>A | |
| ENST00000678208.1:n.1194G>A | ||
| ENST00000678853.1:c.*51G>A | ENSP00000504692.1:n.*51G>A | |
| ENST00000308375.10:c.760G>A | ENSP00000309092.6:p.Val254Met | |
| ENST00000308388.6:c.760G>A | ENSP00000311130.6:p.Val254Met | |
| ENST00000480687.5:c.760G>A | ENSP00000418565.1:p.Val254Met | |
| NM_013334.3:c.760G>A | NP_037466.2:p.Val254Met | |
| NM_021971.2:c.760G>A | NP_068806.1:p.Val254Met | |
| NM_021971.4:c.760G>A MANE Select | NP_068806.2:p.Val254Met | |
| NM_013334.4:c.760G>A | NP_037466.3:p.Val254Met |