Linked Data
ClinVar Variation Id:
8118
ClinVar RCV Id:
RCV000008587
dbSNP Id:
rs121918348
ExAC:
7:128850838 G / A
gnomAD v2:
7-128850838-G-A
gnomAD v3:
7-129210997-G-A
gnomAD v4:
7-129210997-G-A
COSMIC:
COSM13152
PubMed:
PMID:9422511
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129210997G>A , CM000669.2:g.129210997G>A | GRCh38 |
| NC_000007.13:g.128850838G>A , CM000669.1:g.128850838G>A | GRCh37 |
| NC_000007.12:g.128638074G>A | NCBI36 |
| NG_023340.1:g.27126G>A | |
| NG_023340.2:g.27126G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249373.8:c.1685G>A MANE Select | ENSP00000249373.3:p.Arg562Gln | |
| ENST00000655644.1:c.*1440G>A | ENSP00000499377.1:n.*1440G>A | |
| ENST00000249373.7:c.1685G>A | ENSP00000249373.3:p.Arg562Gln | |
| ENST00000462420.2:c.656G>A | ||
| ENST00000475779.1:c.74G>A | ENSP00000420749.1:p.Arg25Gln | |
| NM_005631.4:c.1685G>A | NP_005622.1:p.Arg562Gln | |
| XM_011516522.1:c.1295G>A | XP_011514824.1:p.Arg432Gln | |
| XM_024446891.1:c.1295G>A | XP_024302659.1:p.Arg432Gln | |
| NM_005631.5:c.1685G>A MANE Select | NP_005622.1:p.Arg562Gln |