Linked Data
ClinVar Variation Id:
2932317
ClinVar RCV Id:
RCV003795531
dbSNP Id:
rs55887987
ExAC:
X:66937308 C / G
gnomAD v2:
X-66937308-C-G
gnomAD v3:
X-67717466-C-G
gnomAD v4:
X-67717466-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67717466C>G , CM000685.2:g.67717466C>G | GRCh38 |
| NC_000023.10:g.66937308C>G , CM000685.1:g.66937308C>G | GRCh37 |
| NC_000023.9:g.66854033C>G | NCBI36 |
| NG_009014.2:g.178435C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.*522-12C>G | ENSP00000379358.4:n.*522-12C>G | |
| ENST00000374690.9:c.2174-12C>G MANE Select | ENSP00000363822.3:n.2174-12C>G | |
| ENST00000396043.3:c.801-12C>G | ENSP00000379358.3:n.801-12C>G | |
| ENST00000396044.8:c.2173+5777C>G | ENSP00000379359.3:n.2173+5777C>G | |
| ENST00000612452.5:c.2174-12C>G | ENSP00000484033.2:n.2174-12C>G | |
| ENST00000374690.7:c.2174-12C>G | ENSP00000363822.3:n.2174-12C>G | |
| ENST00000396043.2:c.578-12C>G | ENSP00000379358.2:n.578-12C>G | |
| ENST00000396044.7:c.2173+5777C>G | ENSP00000379359.3:n.2173+5777C>G | |
| ENST00000612452.4:c.1604-12C>G | ENSP00000484033.1:n.1604-12C>G | |
| NM_000044.3:c.2174-12C>G | NP_000035.2:n.2174-12C>G | |
| NM_001011645.2:c.578-12C>G | NP_001011645.1:n.578-12C>G | |
| NM_000044.4:c.2174-12C>G | NP_000035.2:n.2174-12C>G | |
| NM_001011645.3:c.578-12C>G | NP_001011645.1:n.578-12C>G | |
| NM_000044.6:c.2174-12C>G MANE Select | NP_000035.2:n.2174-12C>G |