Linked Data
dbSNP Id:
rs757868547
ExAC:
X:138643737 G / A
gnomAD v2:
X-138643737-G-A
gnomAD v3:
X-139561578-G-A
gnomAD v4:
X-139561578-G-A
COSMIC:
COSM1115966
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139561578G>A , CM000685.2:g.139561578G>A | GRCh38 |
| NC_000023.10:g.138643737G>A , CM000685.1:g.138643737G>A | GRCh37 |
| NC_000023.9:g.138471403G>A | NCBI36 |
| NG_007994.1:g.35843G>A , LRG_556:g.35843G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218099.7:c.893G>A MANE Select | ENSP00000218099.2:p.Arg298Gln | |
| ENST00000643157.1:n.1560G>A | ||
| ENST00000218099.6:c.893G>A | ENSP00000218099.2:p.Arg298Gln | |
| ENST00000394090.2:c.779G>A | ENSP00000377650.2:p.Arg260Gln | |
| NM_000133.3:c.893G>A , LRG_556t1:c.893G>A | NP_000124.1:p.Arg298Gln | |
| NM_001313913.1:c.779G>A | NP_001300842.1:p.Arg260Gln | |
| XM_005262397.3:c.764G>A | XP_005262454.1:p.Arg255Gln | |
| XM_005262397.4:c.764G>A | XP_005262454.1:p.Arg255Gln | |
| NM_000133.4:c.893G>A MANE Select | NP_000124.1:p.Arg298Gln | |
| NM_001313913.2:c.779G>A | NP_001300842.1:p.Arg260Gln |