Linked Data
ClinVar Variation Id:
40870
ClinVar RCV Id:
RCV000033854
dbSNP Id:
rs397514044
ExAC:
3:14172412 G / A
gnomAD v2:
3-14172412-G-A
gnomAD v4:
3-14130912-G-A
COSMIC:
COSM5863655
PubMed:
PMID:21391237
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14130912G>A , CM000665.2:g.14130912G>A | GRCh38 |
| NC_000003.11:g.14172412G>A , CM000665.1:g.14172412G>A | GRCh37 |
| NC_000003.10:g.14147413G>A | NCBI36 |
| NG_008975.1:g.10973G>A , LRG_435:g.10973G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*283G>A | ENSP00000395617.1:n.*283G>A | |
| ENST00000306077.5:c.253G>A MANE Select | ENSP00000303992.5:p.Glu85Lys | |
| ENST00000306077.4:c.253G>A | ENSP00000303992.4:p.Glu85Lys | |
| ENST00000432444.1:c.*283G>A | ENSP00000395617.1:n.*283G>A | |
| NM_024334.2:c.253G>A , LRG_435t1:c.253G>A | NP_077310.1:p.Glu85Lys | |
| XM_011534109.1:c.148G>A | XP_011532411.1:p.Glu50Lys | |
| XM_017007176.2:c.148G>A | XP_016862665.1:p.Glu50Lys | |
| NM_024334.3:c.253G>A MANE Select | NP_077310.1:p.Glu85Lys |