Linked Data
ClinVar Variation Id:
2683592
ClinVar RCV Id:
RCV003480412
dbSNP Id:
rs1556306907
gnomAD v2:
X-71887268-T-C
gnomAD v4:
X-72667418-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.72667418T>C , CM000685.2:g.72667418T>C | GRCh38 |
| NC_000023.10:g.71887268T>C , CM000685.1:g.71887268T>C | GRCh37 |
| NC_000023.9:g.71803993T>C | NCBI36 |
| NG_016599.1:g.51762A>G | |
| NG_016599.2:g.51764A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373542.9:c.674A>G MANE Select | ENSP00000362643.4:p.Gln225Arg | |
| ENST00000339490.7:c.674A>G | ENSP00000342469.3:p.Gln225Arg | |
| ENST00000373539.3:c.674A>G | ENSP00000362640.3:p.Gln225Arg | |
| ENST00000373542.8:c.674A>G | ENSP00000362643.4:p.Gln225Arg | |
| ENST00000373545.7:c.674A>G | ENSP00000362646.3:p.Gln225Arg | |
| ENST00000541944.5:c.674A>G | ENSP00000441251.1:p.Gln225Arg | |
| NM_001122670.1:c.674A>G | NP_001116142.1:p.Gln225Arg | |
| NM_001172436.1:c.674A>G | NP_001165907.1:p.Gln225Arg | |
| NM_002637.3:c.674A>G | NP_002628.2:p.Gln225Arg | |
| XM_006724661.2:c.674A>G | XP_006724724.1:p.Gln225Arg | |
| XR_001755696.1:n.817A>G | ||
| NM_002637.4:c.674A>G MANE Select | NP_002628.2:p.Gln225Arg | |
| NM_001122670.2:c.674A>G | NP_001116142.1:p.Gln225Arg | |
| NM_001172436.2:c.674A>G | NP_001165907.1:p.Gln225Arg |