Linked Data
dbSNP Id:
rs756270566
ExAC:
X:138633277 G / A
gnomAD v2:
X-138633277-G-A
gnomAD v4:
X-139551118-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139551118G>A , CM000685.2:g.139551118G>A | GRCh38 |
| NC_000023.10:g.138633277G>A , CM000685.1:g.138633277G>A | GRCh37 |
| NC_000023.9:g.138460943G>A | NCBI36 |
| NG_007994.1:g.25383G>A , LRG_556:g.25383G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.577G>A MANE Select | ENSP00000218099.2:p.Glu193Lys | |
| ENST00000643157.1:n.1244G>A | ||
| ENST00000218099.6:c.577G>A | ENSP00000218099.2:p.Glu193Lys | |
| ENST00000394090.2:c.463G>A | ENSP00000377650.2:p.Glu155Lys | |
| NM_000133.3:c.577G>A , LRG_556t1:c.577G>A | NP_000124.1:p.Glu193Lys | |
| NM_001313913.1:c.463G>A | NP_001300842.1:p.Glu155Lys | |
| XM_005262397.3:c.448G>A | XP_005262454.1:p.Glu150Lys | |
| XM_005262397.4:c.448G>A | XP_005262454.1:p.Glu150Lys | |
| NM_000133.4:c.577G>A MANE Select | NP_000124.1:p.Glu193Lys | |
| NM_001313913.2:c.463G>A | NP_001300842.1:p.Glu155Lys |