Linked Data
ClinVar Variation Id:
1588509
ClinVar RCV Id:
RCV002096155
dbSNP Id:
rs780516722
ExAC:
X:138643738 A / C
gnomAD v2:
X-138643738-A-C
gnomAD v3:
X-139561579-A-C
gnomAD v4:
X-139561579-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139561579A>C , CM000685.2:g.139561579A>C | GRCh38 |
| NC_000023.10:g.138643738A>C , CM000685.1:g.138643738A>C | GRCh37 |
| NC_000023.9:g.138471404A>C | NCBI36 |
| NG_007994.1:g.35844A>C , LRG_556:g.35844A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218099.7:c.894A>C MANE Select | ENSP00000218099.2:p.Arg298= | |
| ENST00000643157.1:n.1561A>C | ||
| ENST00000218099.6:c.894A>C | ENSP00000218099.2:p.Arg298= | |
| ENST00000394090.2:c.780A>C | ENSP00000377650.2:p.Arg260= | |
| NM_000133.3:c.894A>C , LRG_556t1:c.894A>C | NP_000124.1:p.Arg298= | |
| NM_001313913.1:c.780A>C | NP_001300842.1:p.Arg260= | |
| XM_005262397.3:c.765A>C | XP_005262454.1:p.Arg255= | |
| XM_005262397.4:c.765A>C | XP_005262454.1:p.Arg255= | |
| NM_000133.4:c.894A>C MANE Select | NP_000124.1:p.Arg298= | |
| NM_001313913.2:c.780A>C | NP_001300842.1:p.Arg260= |