Linked Data
ClinVar Variation Id:
701352
dbSNP Id:
rs762082146
ExAC:
X:138612983 A / G
gnomAD v2:
X-138612983-A-G
gnomAD v3:
X-139530824-A-G
gnomAD v4:
X-139530824-A-G
ERepo:
CA10529715/MONDO:0010604/080
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139530824A>G , CM000685.2:g.139530824A>G | GRCh38 |
| NC_000023.10:g.138612983A>G , CM000685.1:g.138612983A>G | GRCh37 |
| NC_000023.9:g.138440649A>G | NCBI36 |
| NG_007994.1:g.5089A>G , LRG_556:g.5089A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.60A>G MANE Select | ENSP00000218099.2:p.Leu20= | |
| ENST00000218099.6:c.60A>G | ENSP00000218099.2:p.Leu20= | |
| ENST00000394090.2:c.60A>G | ENSP00000377650.2:p.Leu20= | |
| ENST00000479617.2:n.67A>G | ||
| NM_000133.3:c.60A>G , LRG_556t1:c.60A>G | NP_000124.1:p.Leu20= | |
| NM_001313913.1:c.60A>G | NP_001300842.1:p.Leu20= | |
| XM_005262397.3:c.60A>G | XP_005262454.1:p.Leu20= | |
| XM_005262397.4:c.60A>G | XP_005262454.1:p.Leu20= | |
| NM_000133.4:c.60A>G MANE Select | NP_000124.1:p.Leu20= | |
| NM_001313913.2:c.60A>G | NP_001300842.1:p.Leu20= |