Linked Data
ClinVar Variation Id:
437146
ClinVar RCV Id:
RCV002524324
dbSNP Id:
rs148601529
ExAC:
22:50658890 G / A
gnomAD v2:
22-50658890-G-A
gnomAD v3:
22-50220461-G-A
gnomAD v4:
22-50220461-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50220461G>A , CM000684.2:g.50220461G>A | GRCh38 |
| NC_000022.10:g.50658890G>A , CM000684.1:g.50658890G>A | GRCh37 |
| NC_000022.9:g.49001017G>A | NCBI36 |
| NG_032160.1:g.29511C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248846.10:c.3898C>T MANE Select | ENSP00000248846.5:p.His1300Tyr | |
| ENST00000248846.9:c.3898C>T | ENSP00000248846.5:p.His1300Tyr | |
| ENST00000439308.6:c.3898C>T | ENSP00000397387.2:p.His1300Tyr | |
| ENST00000491449.5:n.2205C>T | ||
| ENST00000498611.5:n.3618-446C>T | ||
| NM_020461.3:c.3898C>T | NP_065194.2:p.His1300Tyr | |
| XR_938347.1:n.4463C>T | ||
| XR_938348.1:n.3050-446C>T | ||
| XR_001755343.2:n.4467C>T | ||
| XR_001755344.2:n.4467C>T | ||
| XR_002958720.1:n.3054-446C>T | ||
| XR_938347.2:n.4467C>T | ||
| NM_020461.4:c.3898C>T MANE Select | NP_065194.3:p.His1300Tyr |