Linked Data
ClinVar Variation Id:
136243
dbSNP Id:
rs147584361
ExAC:
X:74293709 C / T
gnomAD v2:
X-74293709-C-T
gnomAD v3:
X-75073874-C-T
gnomAD v4:
X-75073874-C-T
COSMIC:
COSM5414252
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.75073874C>T , CM000685.2:g.75073874C>T | GRCh38 |
| NC_000023.10:g.74293709C>T , CM000685.1:g.74293709C>T | GRCh37 |
| NC_000023.9:g.74210434C>T | NCBI36 |
| NG_007980.1:g.87424G>A | |
| NG_007980.3:g.87410G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253577.9:c.941G>A | ENSP00000253577.3:p.Arg314Gln | |
| ENST00000373394.8:c.938G>A MANE Select | ENSP00000362492.3:p.Arg313Gln | |
| ENST00000620875.5:c.821G>A | ENSP00000479985.1:p.Arg274Gln | |
| ENST00000644766.1:c.941G>A | ENSP00000493713.1:p.Arg314Gln | |
| ENST00000645829.3:c.953G>A | ENSP00000496526.2:p.Arg318Gln | |
| ENST00000663420.1:n.858G>A | ||
| ENST00000666534.1:n.828G>A | ||
| ENST00000669388.1:n.799G>A | ||
| ENST00000669573.1:c.855+1488G>A | ENSP00000499543.1:n.855+1488G>A | |
| ENST00000253577.7:c.941G>A | ENSP00000253577.3:p.Arg314Gln | |
| ENST00000339447.8:c.818G>A | ENSP00000343849.4:p.Arg273Gln | |
| ENST00000373394.7:c.938G>A | ENSP00000362492.3:p.Arg313Gln | |
| ENST00000529949.5:c.860G>A | ENSP00000436586.1:p.Arg287Gln | |
| ENST00000534570.5:n.29G>A | ||
| ENST00000620875.4:c.821G>A | ENSP00000479985.1:p.Arg274Gln | |
| NM_001271696.1:c.938G>A | NP_001258625.1:p.Arg313Gln | |
| NM_001271697.1:c.818G>A | NP_001258626.1:p.Arg273Gln | |
| NM_001271698.1:c.860G>A | NP_001258627.1:p.Arg287Gln | |
| NM_001271699.1:c.821G>A | NP_001258628.1:p.Arg274Gln | |
| NM_004299.4:c.941G>A | NP_004290.2:p.Arg314Gln | |
| NM_001271696.2:c.938G>A | NP_001258625.1:p.Arg313Gln | |
| NM_001271697.2:c.818G>A | NP_001258626.1:p.Arg273Gln | |
| NM_001271698.2:c.860G>A | NP_001258627.1:p.Arg287Gln | |
| NM_001271699.2:c.821G>A | NP_001258628.1:p.Arg274Gln | |
| NM_004299.6:c.941G>A | NP_004290.2:p.Arg314Gln | |
| NM_001271696.3:c.938G>A MANE Select | NP_001258625.1:p.Arg313Gln | |
| NM_001271697.3:c.818G>A | NP_001258626.1:p.Arg273Gln | |
| NM_001271698.3:c.860G>A | NP_001258627.1:p.Arg287Gln | |
| NM_001271699.3:c.821G>A | NP_001258628.1:p.Arg274Gln |