Linked Data
ClinVar Variation Id:
789502
ClinVar RCV Id:
RCV000972142
dbSNP Id:
rs62640387
ExAC:
X:135326861 C / T
gnomAD v2:
X-135326861-C-T
gnomAD v3:
X-136244702-C-T
gnomAD v4:
X-136244702-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136244702C>T , CM000685.2:g.136244702C>T | GRCh38 |
| NC_000023.10:g.135326861C>T , CM000685.1:g.135326861C>T | GRCh37 |
| NC_000023.9:g.135154527C>T | NCBI36 |
| NG_016801.1:g.16781G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316077.14:c.347G>A MANE Select | ENSP00000318086.9:p.Arg116Gln | |
| ENST00000316077.13:c.347G>A | ENSP00000318086.9:p.Arg116Gln | |
| ENST00000370660.3:c.347G>A | ENSP00000359694.3:p.Arg116Gln | |
| ENST00000370661.5:c.347G>A | ENSP00000359695.1:p.Arg116Gln | |
| ENST00000370663.9:c.293G>A | ENSP00000359697.5:p.Arg98Gln | |
| NM_001173516.1:c.293G>A | NP_001166987.1:p.Arg98Gln | |
| NM_001173517.1:c.347G>A | NP_001166988.1:p.Arg116Gln | |
| NM_024597.3:c.347G>A | NP_078873.2:p.Arg116Gln | |
| XM_005262472.1:c.347G>A | XP_005262529.1:p.Arg116Gln | |
| XM_005262472.2:c.347G>A | XP_005262529.1:p.Arg116Gln | |
| XM_017029843.1:c.305G>A | XP_016885332.1:p.Arg102Gln | |
| XM_024452448.1:c.347G>A | XP_024308216.1:p.Arg116Gln | |
| NM_024597.4:c.347G>A MANE Select | NP_078873.2:p.Arg116Gln | |
| NM_001173517.2:c.347G>A | NP_001166988.1:p.Arg116Gln |