Linked Data
ClinVar Variation Id:
263617
dbSNP Id:
rs754536393
ExAC:
3:14170990 G / A
gnomAD v2:
3-14170990-G-A
gnomAD v3:
3-14129490-G-A
gnomAD v4:
3-14129490-G-A
PubMed:
PMID:25351510
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14129490G>A , CM000665.2:g.14129490G>A | GRCh38 |
| NC_000003.11:g.14170990G>A , CM000665.1:g.14170990G>A | GRCh37 |
| NC_000003.10:g.14145991G>A | NCBI36 |
| NG_008975.1:g.9551G>A , LRG_435:g.9551G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000432444.2:c.*121G>A | ENSP00000395617.1:n.*121G>A | |
| ENST00000306077.5:c.91G>A MANE Select | ENSP00000303992.5:p.Glu31Lys | |
| ENST00000306077.4:c.91G>A | ENSP00000303992.4:p.Glu31Lys | |
| ENST00000432444.1:c.*121G>A | ENSP00000395617.1:n.*121G>A | |
| NM_024334.2:c.91G>A , LRG_435t1:c.91G>A | NP_077310.1:p.Glu31Lys | |
| XM_011534109.1:c.-15G>A | XP_011532411.1:n.-15G>A | |
| XM_017007176.2:c.-15G>A | XP_016862665.1:n.-15G>A | |
| NM_024334.3:c.91G>A MANE Select | NP_077310.1:p.Glu31Lys |