Linked Data
ClinVar Variation Id:
1605343
ClinVar RCV Id:
RCV002160020
dbSNP Id:
rs751992311
ExAC:
X:138643918 A / G
gnomAD v2:
X-138643918-A-G
gnomAD v4:
X-139561759-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139561759A>G , CM000685.2:g.139561759A>G | GRCh38 |
| NC_000023.10:g.138643918A>G , CM000685.1:g.138643918A>G | GRCh37 |
| NC_000023.9:g.138471584A>G | NCBI36 |
| NG_007994.1:g.36024A>G , LRG_556:g.36024A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.1074A>G MANE Select | ENSP00000218099.2:p.Arg358= | |
| ENST00000643157.1:n.1723+18A>G | ||
| ENST00000218099.6:c.1074A>G | ENSP00000218099.2:p.Arg358= | |
| ENST00000394090.2:c.960A>G | ENSP00000377650.2:p.Arg320= | |
| NM_000133.3:c.1074A>G , LRG_556t1:c.1074A>G | NP_000124.1:p.Arg358= | |
| NM_001313913.1:c.960A>G | NP_001300842.1:p.Arg320= | |
| XM_005262397.3:c.945A>G | XP_005262454.1:p.Arg315= | |
| XM_005262397.4:c.945A>G | XP_005262454.1:p.Arg315= | |
| NM_000133.4:c.1074A>G MANE Select | NP_000124.1:p.Arg358= | |
| NM_001313913.2:c.960A>G | NP_001300842.1:p.Arg320= |