Linked Data
ClinVar Variation Id:
356257
dbSNP Id:
rs36221133
ExAC:
6:31912523 T / C
gnomAD v2:
6-31912523-T-C
gnomAD v3:
6-31944746-T-C
gnomAD v4:
6-31944746-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31944746T>C , CM000668.2:g.31944746T>C | GRCh38 |
| NC_000006.11:g.31912523T>C , CM000668.1:g.31912523T>C | GRCh37 |
| NC_000006.10:g.32020502T>C | NCBI36 |
| NG_008191.1:g.3803T>C , LRG_136:g.3803T>C | |
| NG_011730.1:g.22258T>C , LRG_26:g.22258T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447952.7:c.1736T>C | ENSP00000391354.3:p.Val579Ala | |
| ENST00000452323.7:c.1280T>C | ENSP00000392322.2:p.Val427Ala | |
| ENST00000468407.2:c.1922T>C | ENSP00000512075.1:p.Val641Ala | |
| ENST00000497706.6:c.1283T>C | ENSP00000417482.2:p.Val428Ala | |
| ENST00000695637.1:c.1517T>C | ENSP00000512074.1:p.Val506Ala | |
| ENST00000695638.1:c.1922T>C | ENSP00000512076.1:p.Val641Ala | |
| ENST00000695644.1:c.1526T>C | ENSP00000512079.1:p.Val509Ala | |
| ENST00000299367.10:c.1922T>C MANE Select | ENSP00000299367.5:p.Val641Ala | |
| ENST00000299367.9:c.1922T>C | ENSP00000299367.5:p.Val641Ala | |
| ENST00000383177.7:c.1243T>C | ||
| ENST00000442278.6:c.1526T>C | ENSP00000395683.2:p.Val509Ala | |
| ENST00000452323.6:c.1280T>C | ENSP00000392322.2:p.Val427Ala | |
| ENST00000456570.5:c.1463T>C | ENSP00000410815.1:p.Val488Ala | |
| ENST00000468407.1:n.326T>C | ||
| ENST00000469372.5:c.1184T>C | ENSP00000418923.1:p.Val395Ala | |
| ENST00000477310.1:c.1235T>C | ENSP00000418996.1:p.Val412Ala | |
| ENST00000482060.5:c.*1635T>C | ENSP00000418332.1:n.*1635T>C | |
| ENST00000486124.5:n.2198T>C | ||
| ENST00000497706.5:c.1283T>C | ENSP00000417482.1:p.Val428Ala | |
| NM_000063.5:c.1922T>C | NP_000054.2:p.Val641Ala | |
| NM_001145903.2:c.1526T>C | NP_001139375.1:p.Val509Ala | |
| NM_001178063.2:c.1280T>C | NP_001171534.1:p.Val427Ala | |
| NM_001282457.1:c.1184T>C | NP_001269386.1:p.Val395Ala | |
| NM_001282458.1:c.1835T>C | NP_001269387.1:p.Val612Ala | |
| NM_000063.6:c.1922T>C MANE Select | NP_000054.2:p.Val641Ala | |
| NM_001145903.3:c.1526T>C | NP_001139375.1:p.Val509Ala | |
| NM_001282457.2:c.1184T>C | NP_001269386.1:p.Val395Ala | |
| NM_001282458.2:c.1835T>C | NP_001269387.1:p.Val612Ala | |
| NM_001178063.3:c.1280T>C | NP_001171534.1:p.Val427Ala |