Linked Data
ClinVar Variation Id:
2441219
ClinVar RCV Id:
RCV003492839
dbSNP Id:
rs782317753
ExAC:
X:153609247 G / A
gnomAD v2:
X-153609247-G-A
gnomAD v3:
X-154380887-G-A
gnomAD v4:
X-154380887-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154380887G>A , CM000685.2:g.154380887G>A | GRCh38 |
| NC_000023.10:g.153609247G>A , CM000685.1:g.153609247G>A | GRCh37 |
| NC_000023.9:g.153262441G>A | NCBI36 |
| NG_008677.1:g.11452G>A , LRG_745:g.11452G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682114.1:c.455G>A | ENSP00000507245.1:p.Arg152His | |
| ENST00000682478.1:n.645G>A | ||
| ENST00000683576.1:n.645G>A | ||
| ENST00000683627.1:c.455G>A | ENSP00000507533.1:p.Arg152His | |
| ENST00000684082.1:c.412G>A | ENSP00000508266.1:n.412G>A | |
| ENST00000684633.1:n.427G>A | ||
| ENST00000684678.1:c.451G>A | ENSP00000507059.1:n.451G>A | |
| ENST00000369842.9:c.455G>A MANE Select | ENSP00000358857.4:p.Arg152His | |
| ENST00000369835.3:c.350G>A | ENSP00000358850.3:p.Arg117His | |
| ENST00000369842.8:c.455G>A | ENSP00000358857.4:p.Arg152His | |
| ENST00000428228.5:c.*360G>A | ENSP00000401081.1:n.*360G>A | |
| ENST00000468294.5:n.494G>A | ||
| ENST00000471965.1:n.244G>A | ||
| ENST00000485261.1:n.724G>A | ||
| ENST00000486738.5:n.892G>A | ||
| ENST00000492448.1:n.438G>A | ||
| NM_000117.2:c.455G>A , LRG_745t1:c.455G>A | NP_000108.1:p.Arg152His | |
| XM_024452349.1:c.461G>A | XP_024308117.1:p.Arg154His | |
| NM_000117.3:c.455G>A MANE Select | NP_000108.1:p.Arg152His |