Linked Data
ClinVar Variation Id:
1154497
ClinVar RCV Id:
RCV001496500
dbSNP Id:
rs774786079
ExAC:
X:138644113 T / C
gnomAD v2:
X-138644113-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139561954T>C , CM000685.2:g.139561954T>C | GRCh38 |
| NC_000023.10:g.138644113T>C , CM000685.1:g.138644113T>C | GRCh37 |
| NC_000023.9:g.138471779T>C | NCBI36 |
| NG_007994.1:g.36219T>C , LRG_556:g.36219T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218099.7:c.1269T>C MANE Select | ENSP00000218099.2:p.Ser423= | |
| ENST00000643157.1:n.1723+213T>C | ||
| ENST00000218099.6:c.1269T>C | ENSP00000218099.2:p.Ser423= | |
| ENST00000394090.2:c.1155T>C | ENSP00000377650.2:p.Ser385= | |
| NM_000133.3:c.1269T>C , LRG_556t1:c.1269T>C | NP_000124.1:p.Ser423= | |
| NM_001313913.1:c.1155T>C | NP_001300842.1:p.Ser385= | |
| XM_005262397.3:c.1140T>C | XP_005262454.1:p.Ser380= | |
| XM_005262397.4:c.1140T>C | XP_005262454.1:p.Ser380= | |
| NM_000133.4:c.1269T>C MANE Select | NP_000124.1:p.Ser423= | |
| NM_001313913.2:c.1155T>C | NP_001300842.1:p.Ser385= |