Linked Data
ClinVar Variation Id:
709619
ClinVar RCV Id:
RCV000881064
dbSNP Id:
rs200103201
ExAC:
22:31285230 G / C
gnomAD v2:
22-31285230-G-C
gnomAD v3:
22-30889243-G-C
gnomAD v4:
22-30889243-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.30889243G>C , CM000684.2:g.30889243G>C | GRCh38 |
| NC_000022.10:g.31285230G>C , CM000684.1:g.31285230G>C | GRCh37 |
| NC_000022.9:g.29615230G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431368.6:c.111+9G>C | ENSP00000415274.2:n.111+9G>C | |
| ENST00000454145.6:c.111+9G>C | ENSP00000409011.2:n.111+9G>C | |
| ENST00000713559.1:c.378+9G>C | ENSP00000518852.1:n.378+9G>C | |
| ENST00000332585.11:c.1476+9G>C MANE Select | ENSP00000332576.6:n.1476+9G>C | |
| ENST00000332585.10:c.1476+9G>C | ENSP00000332576.6:n.1476+9G>C | |
| ENST00000401475.5:c.375+9G>C | ENSP00000385254.1:n.375+9G>C | |
| ENST00000403222.7:c.636+9G>C | ENSP00000384213.4:n.636+9G>C | |
| ENST00000407373.5:c.957+9G>C | ENSP00000385237.1:n.957+9G>C | |
| ENST00000424224.5:c.378+9G>C | ENSP00000388575.1:n.378+9G>C | |
| ENST00000431368.5:c.491+9G>C | ||
| ENST00000437268.6:c.702+9G>C | ENSP00000389200.2:n.702+9G>C | |
| ENST00000438716.3:c.978+9G>C | ENSP00000411052.2:n.978+9G>C | |
| ENST00000446658.6:c.1473+9G>C | ENSP00000392080.2:n.1473+9G>C | |
| ENST00000452656.5:c.369+9G>C | ENSP00000409838.1:n.369+9G>C | |
| ENST00000453621.5:c.488+9G>C | ||
| ENST00000454145.5:c.491+9G>C | ||
| ENST00000535268.5:c.108+9G>C | ENSP00000438713.1:n.108+9G>C | |
| NM_001282738.1:c.978+9G>C | NP_001269667.1:n.978+9G>C | |
| NM_001282739.1:c.1473+9G>C | NP_001269668.1:n.1473+9G>C | |
| NM_001282740.1:c.375+9G>C | NP_001269669.1:n.375+9G>C | |
| NM_001282741.1:c.702+9G>C | NP_001269670.1:n.702+9G>C | |
| NM_001282742.1:c.108+9G>C | NP_001269671.1:n.108+9G>C | |
| NM_030758.3:c.1476+9G>C | NP_110385.1:n.1476+9G>C | |
| XM_005261465.3:c.1476+9G>C | XP_005261522.1:n.1476+9G>C | |
| XM_006724203.2:c.1473+9G>C | XP_006724266.2:n.1473+9G>C | |
| XM_006724207.2:c.378+9G>C | XP_006724270.1:n.378+9G>C | |
| XM_006724208.2:c.111+9G>C | XP_006724271.1:n.111+9G>C | |
| XM_011530057.1:c.1476+9G>C | XP_011528359.1:n.1476+9G>C | |
| XM_011530058.1:c.1473+9G>C | XP_011528360.1:n.1473+9G>C | |
| XM_011530059.1:c.1476+9G>C | XP_011528361.1:n.1476+9G>C | |
| XM_011530060.1:c.702+9G>C | XP_011528362.1:n.702+9G>C | |
| XM_011530061.1:c.111+9G>C | XP_011528363.1:n.111+9G>C | |
| XM_011530062.1:c.378+9G>C | XP_011528364.1:n.378+9G>C | |
| NR_146603.1:n.1274C>G | ||
| NM_030758.4:c.1476+9G>C MANE Select | NP_110385.1:n.1476+9G>C | |
| NM_001282739.2:c.1473+9G>C | NP_001269668.1:n.1473+9G>C | |
| NM_001282740.2:c.375+9G>C | NP_001269669.1:n.375+9G>C | |
| NM_001282738.2:c.978+9G>C | NP_001269667.1:n.978+9G>C | |
| NM_001282741.2:c.702+9G>C | NP_001269670.1:n.702+9G>C | |
| NM_001282742.2:c.108+9G>C | NP_001269671.1:n.108+9G>C |