Linked Data
ClinVar Variation Id:
203449
ClinVar RCV Id:
RCV000185609
dbSNP Id:
rs876657407
gnomAD v4:
1-228175028-A-G
PubMed:
PMID:25609768
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228175028A>G , CM000663.2:g.228175028A>G | GRCh38 |
| NC_000001.10:g.228362729A>G , CM000663.1:g.228362729A>G | GRCh37 |
| NC_000001.9:g.226429352A>G | NCBI36 |
| NG_042231.1:g.14221A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366711.4:c.678A>G MANE Select | ENSP00000355672.3:p.Gln226= | |
| ENST00000366711.3:c.678A>G | ENSP00000355672.3:p.Gln226= | |
| ENST00000484749.5:n.2678A>G | ||
| ENST00000546123.2:n.398A>G | ||
| NM_001010867.2:c.678A>G | NP_001010867.1:p.Gln226= | |
| NM_001010867.3:c.678A>G | NP_001010867.1:p.Gln226= | |
| NM_001310327.1:c.99A>G | NP_001297256.1:p.Gln33= | |
| XM_006711753.2:c.678A>G | XP_006711816.1:p.Gln226= | |
| NM_001010867.4:c.678A>G MANE Select | NP_001010867.1:p.Gln226= | |
| NM_001310327.2:c.99A>G | NP_001297256.1:p.Gln33= |