Linked Data
ClinVar Variation Id:
695909
dbSNP Id:
rs148060786
ExAC:
X:138612931 G / A
gnomAD v2:
X-138612931-G-A
gnomAD v3:
X-139530772-G-A
gnomAD v4:
X-139530772-G-A
ERepo:
CA10529706/MONDO:0010604/080
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139530772G>A , CM000685.2:g.139530772G>A | GRCh38 |
| NC_000023.10:g.138612931G>A , CM000685.1:g.138612931G>A | GRCh37 |
| NC_000023.9:g.138440597G>A | NCBI36 |
| NG_007994.1:g.5037G>A , LRG_556:g.5037G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.8G>A MANE Select | ENSP00000218099.2:p.Arg3His | |
| ENST00000218099.6:c.8G>A | ENSP00000218099.2:p.Arg3His | |
| ENST00000394090.2:c.8G>A | ENSP00000377650.2:p.Arg3His | |
| ENST00000479617.2:n.15G>A | ||
| NM_000133.3:c.8G>A , LRG_556t1:c.8G>A | NP_000124.1:p.Arg3His | |
| NM_001313913.1:c.8G>A | NP_001300842.1:p.Arg3His | |
| XM_005262397.3:c.8G>A | XP_005262454.1:p.Arg3His | |
| XM_005262397.4:c.8G>A | XP_005262454.1:p.Arg3His | |
| NM_000133.4:c.8G>A MANE Select | NP_000124.1:p.Arg3His | |
| NM_001313913.2:c.8G>A | NP_001300842.1:p.Arg3His |