Linked Data
ClinVar Variation Id:
9475
dbSNP Id:
rs104893614
ExAC:
2:99012481 G / A
gnomAD v2:
2-99012481-G-A
gnomAD v3:
2-98396018-G-A
gnomAD v4:
2-98396018-G-A
COSMIC:
COSM1580002
PubMed:
PMID:9662398
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.98396018G>A , CM000664.2:g.98396018G>A | GRCh38 |
| NC_000002.11:g.99012481G>A , CM000664.1:g.99012481G>A | GRCh37 |
| NC_000002.10:g.98378913G>A | NCBI36 |
| NG_009097.1:g.54864G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272602.7:c.848G>A MANE Select | ENSP00000272602.2:p.Arg283Gln | |
| ENST00000272602.6:c.848G>A | ENSP00000272602.2:p.Arg283Gln | |
| ENST00000393504.5:c.848G>A | ENSP00000377140.1:p.Arg283Gln | |
| ENST00000409937.1:c.860G>A | ENSP00000386761.1:p.Arg287Gln | |
| ENST00000436404.6:c.794G>A | ENSP00000410070.2:p.Arg265Gln | |
| NM_001079878.1:c.794G>A | NP_001073347.1:p.Arg265Gln | |
| NM_001298.2:c.848G>A | NP_001289.1:p.Arg283Gln | |
| XM_006712243.2:c.959G>A | XP_006712306.1:p.Arg320Gln | |
| XM_011510554.1:c.1013G>A | XP_011508856.1:p.Arg338Gln | |
| XM_011510554.2:c.1013G>A | XP_011508856.1:p.Arg338Gln | |
| NM_001079878.2:c.794G>A | NP_001073347.1:p.Arg265Gln | |
| NM_001298.3:c.848G>A MANE Select | NP_001289.1:p.Arg283Gln |