Linked Data
ClinVar Variation Id:
1685804
dbSNP Id:
rs143018900
ExAC:
X:138644190 G / A
gnomAD v2:
X-138644190-G-A
gnomAD v3:
X-139562031-G-A
gnomAD v4:
X-139562031-G-A
COSMIC:
COSM5659340
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139562031G>A , CM000685.2:g.139562031G>A | GRCh38 |
| NC_000023.10:g.138644190G>A , CM000685.1:g.138644190G>A | GRCh37 |
| NC_000023.9:g.138471856G>A | NCBI36 |
| NG_007994.1:g.36296G>A , LRG_556:g.36296G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.1346G>A MANE Select | ENSP00000218099.2:p.Arg449Gln | |
| ENST00000643157.1:n.1723+290G>A | ||
| ENST00000218099.6:c.1346G>A | ENSP00000218099.2:p.Arg449Gln | |
| ENST00000394090.2:c.1232G>A | ENSP00000377650.2:p.Arg411Gln | |
| NM_000133.3:c.1346G>A , LRG_556t1:c.1346G>A | NP_000124.1:p.Arg449Gln | |
| NM_001313913.1:c.1232G>A | NP_001300842.1:p.Arg411Gln | |
| XM_005262397.3:c.1217G>A | XP_005262454.1:p.Arg406Gln | |
| XM_005262397.4:c.1217G>A | XP_005262454.1:p.Arg406Gln | |
| NM_000133.4:c.1346G>A MANE Select | NP_000124.1:p.Arg449Gln | |
| NM_001313913.2:c.1232G>A | NP_001300842.1:p.Arg411Gln |