Linked Data
ClinVar Variation Id:
269
ClinVar RCV Id:
RCV002408443
dbSNP Id:
rs267607001
gnomAD v2:
10-112572056-G-A
gnomAD v4:
10-110812298-G-A
COSMIC:
COSM1223327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110812298G>A , CM000672.2:g.110812298G>A | GRCh38 |
| NC_000010.10:g.112572056G>A , CM000672.1:g.112572056G>A | GRCh37 |
| NC_000010.9:g.112562046G>A | NCBI36 |
| NG_021177.1:g.172902G>A , LRG_382:g.172902G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369519.4:c.1901G>A MANE Select | ENSP00000358532.3:p.Arg634Gln | |
| ENST00000369519.3:c.1901G>A | ENSP00000358532.3:p.Arg634Gln | |
| NM_001134363.2:c.1901G>A | NP_001127835.2:p.Arg634Gln | |
| XM_011539697.1:c.1517G>A | XP_011537999.1:p.Arg506Gln | |
| XM_017016103.2:c.1736G>A | XP_016871592.1:p.Arg579Gln | |
| XM_017016104.2:c.1517G>A | XP_016871593.1:p.Arg506Gln | |
| NM_001134363.3:c.1901G>A MANE Select | NP_001127835.2:p.Arg634Gln |