Linked Data
ClinVar Variation Id:
567389
ClinVar RCV Id:
RCV000687457
dbSNP Id:
rs780647851
ExAC:
X:43591035 G / A
gnomAD v2:
X-43591035-G-A
gnomAD v3:
X-43731788-G-A
gnomAD v4:
X-43731788-G-A
COSMIC:
COSM1214348
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43731788G>A , CM000685.2:g.43731788G>A | GRCh38 |
| NC_000023.10:g.43591035G>A , CM000685.1:g.43591035G>A | GRCh37 |
| NC_000023.9:g.43475979G>A | NCBI36 |
| NG_008957.2:g.80628G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542639.6:c.491G>A | ENSP00000440846.1:p.Arg164Gln | |
| ENST00000686683.1:c.200G>A | ENSP00000509063.1:p.Arg67Gln | |
| ENST00000686980.1:n.1022G>A | ||
| ENST00000688006.1:c.491G>A | ENSP00000510311.1:p.Arg164Gln | |
| ENST00000688859.1:n.446G>A | ||
| ENST00000689087.1:c.491G>A | ENSP00000508997.1:p.Arg164Gln | |
| ENST00000693128.1:c.785G>A | ENSP00000508493.1:p.Arg262Gln | |
| ENST00000338702.4:c.890G>A MANE Select | ENSP00000340684.3:p.Arg297Gln | |
| ENST00000338702.3:c.890G>A | ENSP00000340684.3:p.Arg297Gln | |
| ENST00000542639.5:c.491G>A | ENSP00000440846.1:p.Arg164Gln | |
| NM_000240.3:c.890G>A | NP_000231.1:p.Arg297Gln | |
| NM_001270458.1:c.491G>A | NP_001257387.1:p.Arg164Gln | |
| NM_000240.4:c.890G>A MANE Select | NP_000231.1:p.Arg297Gln | |
| NM_001270458.2:c.491G>A | NP_001257387.1:p.Arg164Gln |