Linked Data
ClinVar Variation Id:
1918152
ClinVar RCV Id:
RCV002601815
dbSNP Id:
rs546123228
ExAC:
22:50659104 G / A
gnomAD v2:
22-50659104-G-A
gnomAD v3:
22-50220675-G-A
gnomAD v4:
22-50220675-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50220675G>A , CM000684.2:g.50220675G>A | GRCh38 |
| NC_000022.10:g.50659104G>A , CM000684.1:g.50659104G>A | GRCh37 |
| NC_000022.9:g.49001231G>A | NCBI36 |
| NG_032160.1:g.29297C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3684C>T MANE Select | ENSP00000248846.5:p.Asn1228= | |
| ENST00000248846.9:c.3684C>T | ENSP00000248846.5:p.Asn1228= | |
| ENST00000439308.6:c.3684C>T | ENSP00000397387.2:p.Asn1228= | |
| ENST00000491449.5:n.1991C>T | ||
| ENST00000498611.5:n.3617+600C>T | ||
| NM_020461.3:c.3684C>T | NP_065194.2:p.Asn1228= | |
| XR_938347.1:n.4249C>T | ||
| XR_938348.1:n.3050-660C>T | ||
| XR_001755343.2:n.4253C>T | ||
| XR_001755344.2:n.4253C>T | ||
| XR_002958720.1:n.3054-660C>T | ||
| XR_938347.2:n.4253C>T | ||
| NM_020461.4:c.3684C>T MANE Select | NP_065194.3:p.Asn1228= |