Linked Data
ClinVar Variation Id:
462827
dbSNP Id:
rs782642152
ExAC:
X:153609403 G / A
gnomAD v2:
X-153609403-G-A
gnomAD v3:
X-154381043-G-A
gnomAD v4:
X-154381043-G-A
PubMed:
PMID:23395478
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154381043G>A , CM000685.2:g.154381043G>A | GRCh38 |
| NC_000023.10:g.153609403G>A , CM000685.1:g.153609403G>A | GRCh37 |
| NC_000023.9:g.153262597G>A | NCBI36 |
| NG_008677.1:g.11608G>A , LRG_745:g.11608G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.572+39G>A | ENSP00000507245.1:n.572+39G>A | |
| ENST00000682478.1:n.762+39G>A | ||
| ENST00000683576.1:n.801G>A | ||
| ENST00000683627.1:c.611G>A | ENSP00000507533.1:p.Arg204His | |
| ENST00000684082.1:c.568G>A | ENSP00000508266.1:n.568G>A | |
| ENST00000684633.1:n.583G>A | ||
| ENST00000684678.1:c.568+39G>A | ENSP00000507059.1:n.568+39G>A | |
| ENST00000369842.9:c.611G>A MANE Select | ENSP00000358857.4:p.Arg204His | |
| ENST00000369835.3:c.506G>A | ENSP00000358850.3:p.Arg169His | |
| ENST00000369842.8:c.611G>A | ENSP00000358857.4:p.Arg204His | |
| ENST00000428228.5:c.*516G>A | ENSP00000401081.1:n.*516G>A | |
| ENST00000471965.1:n.400G>A | ||
| ENST00000486738.5:n.1048G>A | ||
| ENST00000492448.1:n.594G>A | ||
| NM_000117.2:c.611G>A , LRG_745t1:c.611G>A | NP_000108.1:p.Arg204His | |
| XM_024452349.1:c.617G>A | XP_024308117.1:p.Arg206His | |
| NM_000117.3:c.611G>A MANE Select | NP_000108.1:p.Arg204His |