Linked Data
ClinVar Variation Id:
9846
dbSNP Id:
rs137852591
ExAC:
X:66941751 C / G
gnomAD v2:
X-66941751-C-G
gnomAD v3:
X-67721909-C-G
gnomAD v4:
X-67721909-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67721909C>G , CM000685.2:g.67721909C>G | GRCh38 |
| NC_000023.10:g.66941751C>G , CM000685.1:g.66941751C>G | GRCh37 |
| NC_000023.9:g.66858476C>G | NCBI36 |
| NG_009014.2:g.182878C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.*743C>G | ENSP00000379358.4:n.*743C>G | |
| ENST00000374690.9:c.2395C>G MANE Select | ENSP00000363822.3:p.Gln799Glu | |
| ENST00000396043.3:c.1022C>G | ENSP00000379358.3:n.1022C>G | |
| ENST00000396044.8:c.2174-1777C>G | ENSP00000379359.3:n.2174-1777C>G | |
| ENST00000612452.5:c.2395C>G | ENSP00000484033.2:p.Gln799Glu | |
| ENST00000374690.7:c.2395C>G | ENSP00000363822.3:p.Gln799Glu | |
| ENST00000396043.2:c.799C>G | ENSP00000379358.2:p.Gln267Glu | |
| ENST00000396044.7:c.2174-1777C>G | ENSP00000379359.3:n.2174-1777C>G | |
| ENST00000612452.4:c.1825C>G | ENSP00000484033.1:p.Gln609Glu | |
| NM_000044.3:c.2395C>G | NP_000035.2:p.Gln799Glu | |
| NM_001011645.2:c.799C>G | NP_001011645.1:p.Gln267Glu | |
| NM_000044.4:c.2395C>G | NP_000035.2:p.Gln799Glu | |
| NM_001011645.3:c.799C>G | NP_001011645.1:p.Gln267Glu | |
| NM_000044.6:c.2395C>G MANE Select | NP_000035.2:p.Gln799Glu |