Linked Data
dbSNP Id:
rs750236434
ExAC:
X:119064050 T / C
gnomAD v2:
X-119064050-T-C
gnomAD v4:
X-119930087-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119930087T>C , CM000685.2:g.119930087T>C | GRCh38 |
| NC_000023.10:g.119064050T>C , CM000685.1:g.119064050T>C | GRCh37 |
| NC_000023.9:g.118948078T>C | NCBI36 |
| NG_021260.1:g.18686A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371410.5:c.1002A>G MANE Select | ENSP00000360464.3:p.Arg334= | |
| ENST00000652253.1:c.998A>G | ||
| ENST00000371410.4:c.1002A>G | ENSP00000360464.3:p.Arg334= | |
| ENST00000477789.5:n.1930A>G | ||
| NM_024528.3:c.1002A>G | NP_078804.2:p.Arg334= | |
| XM_017029842.1:c.705A>G | XP_016885331.1:p.Arg235= | |
| NM_024528.4:c.1002A>G MANE Select | NP_078804.2:p.Arg334= |