Linked Data
ClinVar Variation Id:
899620
ClinVar RCV Id:
RCV001144294
dbSNP Id:
rs2094042528
gnomAD v4:
22-32104850-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32104850A>C , CM000684.2:g.32104850A>C | GRCh38 |
| NC_000022.10:g.32500837A>C , CM000684.1:g.32500837A>C | GRCh37 |
| NC_000022.9:g.30830837A>C | NCBI36 |
| NG_017045.1:g.66819A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266088.9:c.1730A>C MANE Select | ENSP00000266088.4:p.Glu577Ala | |
| ENST00000266088.8:c.1730A>C | ENSP00000266088.4:p.Glu577Ala | |
| ENST00000543737.2:c.1349A>C | ENSP00000444898.1:p.Glu450Ala | |
| NM_000343.3:c.1730A>C | NP_000334.1:p.Glu577Ala | |
| NM_001256314.1:c.1349A>C | NP_001243243.1:p.Glu450Ala | |
| XR_938173.1:n.591+1988T>G | ||
| XR_938174.1:n.486+15005T>G | ||
| NM_000343.4:c.1730A>C MANE Select | NP_000334.1:p.Glu577Ala | |
| NM_001256314.2:c.1349A>C | NP_001243243.1:p.Glu450Ala |