Linked Data
ClinVar Variation Id:
3022003
ClinVar RCV Id:
RCV003880586
dbSNP Id:
rs781300446
ExAC:
X:70339213 C / G
gnomAD v2:
X-70339213-C-G
gnomAD v4:
X-71119363-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71119363C>G , CM000685.2:g.71119363C>G | GRCh38 |
| NC_000023.10:g.70339213C>G , CM000685.1:g.70339213C>G | GRCh37 |
| NC_000023.9:g.70255938C>G | NCBI36 |
| NG_012808.1:g.5808C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333646.11:c.100-10C>G | ENSP00000333125.8:n.100-10C>G | |
| ENST00000374102.6:c.100-10C>G | ENSP00000363215.2:n.100-10C>G | |
| ENST00000429213.3:c.100-10C>G | ENSP00000399084.2:n.100-10C>G | |
| ENST00000686548.1:c.124C>G | ENSP00000509582.1:p.Pro42Ala | |
| ENST00000687382.1:c.100-10C>G | ENSP00000510724.1:n.100-10C>G | |
| ENST00000688663.1:c.100-10C>G | ENSP00000509348.1:n.100-10C>G | |
| ENST00000688718.1:n.36-10C>G | ||
| ENST00000689008.1:c.124C>G | ENSP00000509134.1:p.Pro42Ala | |
| ENST00000690145.1:c.100-10C>G | ENSP00000508818.1:n.100-10C>G | |
| ENST00000690242.1:c.100-10C>G | ENSP00000510090.1:n.100-10C>G | |
| ENST00000690828.1:n.256-10C>G | ||
| ENST00000691468.1:c.100-10C>G | ENSP00000509011.1:n.100-10C>G | |
| ENST00000692304.1:c.100-10C>G | ENSP00000508427.1:n.100-10C>G | |
| ENST00000692864.1:c.124C>G | ENSP00000510321.1:p.Pro42Ala | |
| ENST00000693324.1:c.100-10C>G | ENSP00000508643.1:n.100-10C>G | |
| ENST00000374080.8:c.100-10C>G MANE Select | ENSP00000363193.3:n.100-10C>G | |
| ENST00000333646.10:c.-360-10C>G | ENSP00000333125.7:n.-360-10C>G | |
| ENST00000374080.7:c.100-10C>G | ENSP00000363193.3:n.100-10C>G | |
| ENST00000374102.5:c.100-10C>G | ENSP00000363215.1:n.100-10C>G | |
| ENST00000429213.2:c.44C>G | ||
| NM_005120.2:c.100-10C>G | NP_005111.2:n.100-10C>G | |
| XM_005262317.1:c.100-10C>G | XP_005262374.1:n.100-10C>G | |
| XM_005262319.1:c.100-10C>G | XP_005262376.1:n.100-10C>G | |
| NM_005120.3:c.100-10C>G MANE Select | NP_005111.2:n.100-10C>G |