Linked Data
ClinVar Variation Id:
161504
ClinVar RCV Id:
RCV000149038
dbSNP Id:
rs193920784
ExAC:
7:100683647 G / A
gnomAD v2:
7-100683647-G-A
gnomAD v3:
7-101040366-G-A
gnomAD v4:
7-101040366-G-A
COSMIC:
COSM1673399
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.101040366G>A , CM000669.2:g.101040366G>A | GRCh38 |
| NC_000007.13:g.100683647G>A , CM000669.1:g.100683647G>A | GRCh37 |
| NC_000007.12:g.100470367G>A | NCBI36 |
| NG_050729.1:g.25291G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306151.9:c.8950G>A MANE Select | ENSP00000302716.4:p.Glu2984Lys | |
| ENST00000306151.8:c.8950G>A | ENSP00000302716.4:p.Glu2984Lys | |
| ENST00000379439.3:c.8950G>A | ENSP00000368751.3:p.Glu2984Lys | |
| NM_001040105.1:c.8950G>A | NP_001035194.1:p.Glu2984Lys | |
| NR_133665.1:n.9003G>A | ||
| NM_001040105.2:c.8950G>A MANE Select | NP_001035194.1:p.Glu2984Lys | |
| NR_133665.2:n.9005G>A |