Linked Data
ClinVar Variation Id:
42278
dbSNP Id:
rs147920229
ExAC:
X:153609438 G / A
gnomAD v2:
X-153609438-G-A
gnomAD v3:
X-154381078-G-A
gnomAD v4:
X-154381078-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154381078G>A , CM000685.2:g.154381078G>A | GRCh38 |
| NC_000023.10:g.153609438G>A , CM000685.1:g.153609438G>A | GRCh37 |
| NC_000023.9:g.153262632G>A | NCBI36 |
| NG_008677.1:g.11643G>A , LRG_745:g.11643G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.572+74G>A | ENSP00000507245.1:n.572+74G>A | |
| ENST00000682478.1:n.762+74G>A | ||
| ENST00000683576.1:n.836G>A | ||
| ENST00000683627.1:c.646G>A | ENSP00000507533.1:p.Gly216Arg | |
| ENST00000684082.1:c.603G>A | ENSP00000508266.1:n.603G>A | |
| ENST00000684633.1:n.618G>A | ||
| ENST00000684678.1:c.568+74G>A | ENSP00000507059.1:n.568+74G>A | |
| ENST00000369842.9:c.646G>A MANE Select | ENSP00000358857.4:p.Gly216Arg | |
| ENST00000369835.3:c.541G>A | ENSP00000358850.3:p.Gly181Arg | |
| ENST00000369842.8:c.646G>A | ENSP00000358857.4:p.Gly216Arg | |
| ENST00000428228.5:c.*551G>A | ENSP00000401081.1:n.*551G>A | |
| ENST00000471965.1:n.435G>A | ||
| ENST00000486738.5:n.1083G>A | ||
| ENST00000492448.1:n.629G>A | ||
| NM_000117.2:c.646G>A , LRG_745t1:c.646G>A | NP_000108.1:p.Gly216Arg | |
| XM_024452349.1:c.652G>A | XP_024308117.1:p.Gly218Arg | |
| NM_000117.3:c.646G>A MANE Select | NP_000108.1:p.Gly216Arg |