Linked Data
ClinVar Variation Id:
1121024
dbSNP Id:
rs550803593
ExAC:
22:19883078 G / A
gnomAD v2:
22-19883078-G-A
gnomAD v3:
22-19895555-G-A
gnomAD v4:
22-19895555-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19895555G>A , CM000684.2:g.19895555G>A | GRCh38 |
| NC_000022.10:g.19883078G>A , CM000684.1:g.19883078G>A | GRCh37 |
| NC_000022.9:g.18263078G>A | NCBI36 |
| NG_011835.1:g.51282C>T , LRG_417:g.51282C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.801C>T MANE Select | ENSP00000383365.1:p.His267= | |
| ENST00000334363.14:c.801C>T | ENSP00000334451.9:p.His267= | |
| ENST00000400518.5:c.711C>T | ENSP00000383362.1:p.His237= | |
| ENST00000400519.6:c.798C>T | ENSP00000383363.1:p.His266= | |
| ENST00000400521.6:c.801C>T | ENSP00000383365.1:p.His267= | |
| ENST00000400525.6:c.732C>T | ENSP00000383369.3:p.His244= | |
| ENST00000474308.5:c.744C>T | ENSP00000485665.1:p.His248= | |
| ENST00000475995.3:c.298C>T | ||
| ENST00000491939.6:c.705C>T | ENSP00000485543.1:p.His235= | |
| ENST00000494454.5:n.875C>T | ||
| ENST00000542719.6:c.513C>T | ENSP00000485128.2:p.His171= | |
| ENST00000634537.1:c.30C>T | ENSP00000489208.1:p.His10= | |
| ENST00000635155.1:n.387C>T | ||
| NM_001282512.1:c.801C>T | NP_001269441.1:p.His267= | |
| NM_006440.4:c.801C>T | NP_006431.2:p.His267= | |
| NM_001282512.2:c.801C>T | NP_001269441.1:p.His267= | |
| NM_001352300.1:c.798C>T | NP_001339229.1:p.His266= | |
| NM_001352301.1:c.711C>T | NP_001339230.1:p.His237= | |
| NM_001352302.1:c.513C>T | NP_001339231.1:p.His171= | |
| NM_001352303.1:c.705C>T | NP_001339232.1:p.His235= | |
| NR_147957.1:n.933C>T | ||
| NM_006440.5:c.801C>T MANE Select | NP_006431.2:p.His267= | |
| NM_001282512.3:c.801C>T | NP_001269441.1:p.His267= | |
| NM_001352300.2:c.798C>T | NP_001339229.1:p.His266= | |
| NR_147957.2:n.759C>T | ||
| NM_001352301.2:c.711C>T | NP_001339230.1:p.His237= | |
| NM_001352302.2:c.513C>T | NP_001339231.1:p.His171= | |
| NM_001352303.2:c.705C>T | NP_001339232.1:p.His235= |