Linked Data
ClinVar Variation Id:
1153210
ClinVar RCV Id:
RCV001494812
dbSNP Id:
rs147329335
ExAC:
22:50659623 G / A
gnomAD v2:
22-50659623-G-A
gnomAD v3:
22-50221194-G-A
gnomAD v4:
22-50221194-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50221194G>A , CM000684.2:g.50221194G>A | GRCh38 |
| NC_000022.10:g.50659623G>A , CM000684.1:g.50659623G>A | GRCh37 |
| NC_000022.9:g.49001750G>A | NCBI36 |
| NG_032160.1:g.28778C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3165C>T MANE Select | ENSP00000248846.5:p.His1055= | |
| ENST00000248846.9:c.3165C>T | ENSP00000248846.5:p.His1055= | |
| ENST00000439308.6:c.3165C>T | ENSP00000397387.2:p.His1055= | |
| ENST00000491449.5:n.1472C>T | ||
| ENST00000498611.5:n.3617+81C>T | ||
| NM_020461.3:c.3165C>T | NP_065194.2:p.His1055= | |
| XR_938347.1:n.3730C>T | ||
| XR_938348.1:n.3049+834C>T | ||
| XR_001755343.2:n.3734C>T | ||
| XR_001755344.2:n.3734C>T | ||
| XR_002958720.1:n.3053+834C>T | ||
| XR_938347.2:n.3734C>T | ||
| NM_020461.4:c.3165C>T MANE Select | NP_065194.3:p.His1055= |