Linked Data
dbSNP Id:
rs782187019
ExAC:
X:50653986 G / A
gnomAD v2:
X-50653986-G-A
gnomAD v3:
X-50910986-G-A
gnomAD v4:
X-50910986-G-A
COSMIC:
COSM1122773
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50910986G>A , CM000685.2:g.50910986G>A | GRCh38 |
| NC_000023.10:g.50653986G>A , CM000685.1:g.50653986G>A | GRCh37 |
| NC_000023.9:g.50670726G>A | NCBI36 |
| NG_012894.1:g.5203G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.203G>A MANE Select | ENSP00000252677.3:p.Arg68Gln | |
| ENST00000252677.3:c.203G>A | ENSP00000252677.3:p.Arg68Gln | |
| NM_005448.2:c.203G>A MANE Select | NP_005439.2:p.Arg68Gln |