Linked Data
ClinVar Variation Id:
1012887
ClinVar RCV Id:
RCV002070142
dbSNP Id:
rs775432228
ExAC:
X:119582848 T / C
gnomAD v2:
X-119582848-T-C
gnomAD v3:
X-120448993-T-C
gnomAD v4:
X-120448993-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.120448993T>C , CM000685.2:g.120448993T>C | GRCh38 |
| NC_000023.10:g.119582848T>C , CM000685.1:g.119582848T>C | GRCh37 |
| NC_000023.9:g.119466876T>C | NCBI36 |
| NG_007995.1:g.25357A>G , LRG_749:g.25357A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706600.1:c.533A>G | ENSP00000516464.1:p.Gln178Arg | |
| ENST00000200639.9:c.533A>G MANE Select | ENSP00000200639.4:p.Gln178Arg | |
| ENST00000200639.8:c.533A>G | ENSP00000200639.4:p.Gln178Arg | |
| ENST00000371335.4:c.533A>G | ENSP00000360386.4:p.Gln178Arg | |
| ENST00000434600.6:c.533A>G | ENSP00000408411.2:p.Gln178Arg | |
| ENST00000486593.5:c.76A>G | ||
| NM_001122606.1:c.533A>G , LRG_749t3:c.533A>G | NP_001116078.1:p.Gln178Arg | |
| NM_002294.2:c.533A>G , LRG_749t1:c.533A>G | NP_002285.1:p.Gln178Arg | |
| NM_013995.2:c.533A>G , LRG_749t2:c.533A>G | NP_054701.1:p.Gln178Arg | |
| NM_002294.3:c.533A>G MANE Select | NP_002285.1:p.Gln178Arg |