Linked Data
ClinVar Variation Id:
36030
dbSNP Id:
rs148515772
ExAC:
X:153609262 G / A
gnomAD v2:
X-153609262-G-A
gnomAD v3:
X-154380902-G-A
gnomAD v4:
X-154380902-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154380902G>A , CM000685.2:g.154380902G>A | GRCh38 |
| NC_000023.10:g.153609262G>A , CM000685.1:g.153609262G>A | GRCh37 |
| NC_000023.9:g.153262456G>A | NCBI36 |
| NG_008677.1:g.11467G>A , LRG_745:g.11467G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.470G>A | ENSP00000507245.1:p.Arg157Gln | |
| ENST00000682478.1:n.660G>A | ||
| ENST00000683576.1:n.660G>A | ||
| ENST00000683627.1:c.470G>A | ENSP00000507533.1:p.Arg157Gln | |
| ENST00000684082.1:c.427G>A | ENSP00000508266.1:n.427G>A | |
| ENST00000684633.1:n.442G>A | ||
| ENST00000684678.1:c.466G>A | ENSP00000507059.1:n.466G>A | |
| ENST00000369842.9:c.470G>A MANE Select | ENSP00000358857.4:p.Arg157Gln | |
| ENST00000369835.3:c.365G>A | ENSP00000358850.3:p.Arg122Gln | |
| ENST00000369842.8:c.470G>A | ENSP00000358857.4:p.Arg157Gln | |
| ENST00000428228.5:c.*375G>A | ENSP00000401081.1:n.*375G>A | |
| ENST00000471965.1:n.259G>A | ||
| ENST00000485261.1:n.739G>A | ||
| ENST00000486738.5:n.907G>A | ||
| ENST00000492448.1:n.453G>A | ||
| NM_000117.2:c.470G>A , LRG_745t1:c.470G>A | NP_000108.1:p.Arg157Gln | |
| XM_024452349.1:c.476G>A | XP_024308117.1:p.Arg159Gln | |
| NM_000117.3:c.470G>A MANE Select | NP_000108.1:p.Arg157Gln |