Linked Data
ClinVar Variation Id:
788933
ClinVar RCV Id:
RCV000971449
dbSNP Id:
rs182152986
ExAC:
22:31090971 G / C
gnomAD v2:
22-31090971-G-C
gnomAD v3:
22-30694984-G-C
gnomAD v4:
22-30694984-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.30694984G>C , CM000684.2:g.30694984G>C | GRCh38 |
| NC_000022.10:g.31090971G>C , CM000684.1:g.31090971G>C | GRCh37 |
| NC_000022.9:g.29420971G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332585.11:c.75G>C MANE Select | ENSP00000332576.6:p.Thr25= | |
| ENST00000332585.10:c.75G>C | ENSP00000332576.6:p.Thr25= | |
| ENST00000403222.7:c.-194+640G>C | ENSP00000384213.4:n.-194+640G>C | |
| ENST00000407373.5:c.125+640G>C | ENSP00000385237.1:n.125+640G>C | |
| ENST00000438716.3:c.149+640G>C | ENSP00000411052.2:n.149+640G>C | |
| ENST00000446658.6:c.75G>C | ENSP00000392080.2:p.Thr25= | |
| NM_001282738.1:c.149+640G>C | NP_001269667.1:n.149+640G>C | |
| NM_001282739.1:c.75G>C | NP_001269668.1:p.Thr25= | |
| NM_030758.3:c.75G>C | NP_110385.1:p.Thr25= | |
| XM_005261465.3:c.75G>C | XP_005261522.1:p.Thr25= | |
| XM_006724203.2:c.75G>C | XP_006724266.2:p.Thr25= | |
| XM_011530057.1:c.75G>C | XP_011528359.1:p.Thr25= | |
| XM_011530058.1:c.75G>C | XP_011528360.1:p.Thr25= | |
| XM_011530059.1:c.75G>C | XP_011528361.1:p.Thr25= | |
| NM_030758.4:c.75G>C MANE Select | NP_110385.1:p.Thr25= | |
| NM_001282739.2:c.75G>C | NP_001269668.1:p.Thr25= | |
| NM_001282738.2:c.149+640G>C | NP_001269667.1:n.149+640G>C |