Linked Data
ClinVar Variation Id:
130374
dbSNP Id:
rs146051561
ExAC:
X:99925959 G / A
gnomAD v2:
X-99925959-G-A
gnomAD v3:
X-100670962-G-A
gnomAD v4:
X-100670962-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100670962G>A , CM000685.2:g.100670962G>A | GRCh38 |
| NC_000023.10:g.99925959G>A , CM000685.1:g.99925959G>A | GRCh37 |
| NC_000023.9:g.99812615G>A | NCBI36 |
| NG_021337.1:g.31797G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373004.5:c.1373G>A MANE Select | ENSP00000362095.3:p.Arg458Gln | |
| ENST00000638920.1:n.1376G>A | ||
| ENST00000640282.1:c.297G>A | ENSP00000491188.1:n.297G>A | |
| ENST00000373004.3:c.1373G>A | ENSP00000362095.3:p.Arg458Gln | |
| NM_014467.2:c.1373G>A | NP_055282.1:p.Arg458Gln | |
| XM_005262121.2:c.1373G>A | XP_005262178.1:p.Arg458Gln | |
| NM_014467.3:c.1373G>A MANE Select | NP_055282.1:p.Arg458Gln |