Linked Data
dbSNP Id:
rs782453307
ExAC:
X:50659219 G / A
gnomAD v2:
X-50659219-G-A
gnomAD v3:
X-50916219-G-A
gnomAD v4:
X-50916219-G-A
COSMIC:
COSM3694781
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50916219G>A , CM000685.2:g.50916219G>A | GRCh38 |
| NC_000023.10:g.50659219G>A , CM000685.1:g.50659219G>A | GRCh37 |
| NC_000023.9:g.50675959G>A | NCBI36 |
| NG_012894.1:g.10436G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.791G>A MANE Select | ENSP00000252677.3:p.Arg264Gln | |
| ENST00000252677.3:c.791G>A | ENSP00000252677.3:p.Arg264Gln | |
| NM_005448.2:c.791G>A MANE Select | NP_005439.2:p.Arg264Gln |