Linked Data
ClinVar Variation Id:
2936340
ClinVar RCV Id:
RCV003796626
dbSNP Id:
rs137852593
ExAC:
X:66937326 G / A
gnomAD v2:
X-66937326-G-A
gnomAD v3:
X-67717484-G-A
gnomAD v4:
X-67717484-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67717484G>A , CM000685.2:g.67717484G>A | GRCh38 |
| NC_000023.10:g.66937326G>A , CM000685.1:g.66937326G>A | GRCh37 |
| NC_000023.9:g.66854051G>A | NCBI36 |
| NG_009014.2:g.178453G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.*528G>A | ENSP00000379358.4:n.*528G>A | |
| ENST00000374690.9:c.2180G>A MANE Select | ENSP00000363822.3:p.Arg727His | |
| ENST00000396043.3:c.807G>A | ENSP00000379358.3:n.807G>A | |
| ENST00000396044.8:c.2173+5795G>A | ENSP00000379359.3:n.2173+5795G>A | |
| ENST00000612452.5:c.2180G>A | ENSP00000484033.2:p.Arg727His | |
| ENST00000374690.7:c.2180G>A | ENSP00000363822.3:p.Arg727His | |
| ENST00000396043.2:c.584G>A | ENSP00000379358.2:p.Arg195His | |
| ENST00000396044.7:c.2173+5795G>A | ENSP00000379359.3:n.2173+5795G>A | |
| ENST00000612452.4:c.1610G>A | ENSP00000484033.1:p.Arg537His | |
| NM_000044.3:c.2180G>A | NP_000035.2:p.Arg727His | |
| NM_001011645.2:c.584G>A | NP_001011645.1:p.Arg195His | |
| NM_000044.4:c.2180G>A | NP_000035.2:p.Arg727His | |
| NM_001011645.3:c.584G>A | NP_001011645.1:p.Arg195His | |
| NM_000044.6:c.2180G>A MANE Select | NP_000035.2:p.Arg727His |