Linked Data
ClinVar Variation Id:
343499
ClinVar RCV Id:
RCV002323550
dbSNP Id:
rs568179990
ExAC:
3:14170931 G / A
gnomAD v2:
3-14170931-G-A
gnomAD v3:
3-14129431-G-A
gnomAD v4:
3-14129431-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14129431G>A , CM000665.2:g.14129431G>A | GRCh38 |
| NC_000003.11:g.14170931G>A , CM000665.1:g.14170931G>A | GRCh37 |
| NC_000003.10:g.14145932G>A | NCBI36 |
| NG_008975.1:g.9492G>A , LRG_435:g.9492G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000432444.2:c.*62G>A | ENSP00000395617.1:n.*62G>A | |
| ENST00000306077.5:c.32G>A MANE Select | ENSP00000303992.5:p.Arg11Gln | |
| ENST00000306077.4:c.32G>A | ENSP00000303992.4:p.Arg11Gln | |
| ENST00000432444.1:c.*62G>A | ENSP00000395617.1:n.*62G>A | |
| NM_024334.2:c.32G>A , LRG_435t1:c.32G>A | NP_077310.1:p.Arg11Gln | |
| XM_011534109.1:c.-74G>A | XP_011532411.1:n.-74G>A | |
| XM_017007176.2:c.-74G>A | XP_016862665.1:n.-74G>A | |
| NM_024334.3:c.32G>A MANE Select | NP_077310.1:p.Arg11Gln |