Linked Data
ClinVar Variation Id:
341484
dbSNP Id:
rs181364853
gnomAD v2:
22-36678521-G-A
gnomAD v3:
22-36282475-G-A
gnomAD v4:
22-36282475-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36282475G>A , CM000684.2:g.36282475G>A | GRCh38 |
| NC_000022.10:g.36678521G>A , CM000684.1:g.36678521G>A | GRCh37 |
| NC_000022.9:g.35008467G>A | NCBI36 |
| NG_011884.2:g.110544C>T , LRG_567:g.110544C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685708.1:n.2509C>T | ||
| ENST00000685801.1:c.*193C>T | ENSP00000510688.1:n.*193C>T | |
| ENST00000690244.1:n.1412C>T | ||
| ENST00000691109.1:n.6371C>T | ||
| ENST00000216181.11:c.*193C>T MANE Select | ENSP00000216181.6:n.*193C>T | |
| ENST00000216181.9:c.*193C>T | ENSP00000216181.5:n.*193C>T | |
| NM_002473.5:c.*193C>T , LRG_567t1:c.*193C>T | NP_002464.1:n.*193C>T | |
| XM_011530197.1:c.*193C>T | XP_011528499.1:n.*193C>T | |
| XM_011530197.2:c.*193C>T | XP_011528499.1:n.*193C>T | |
| XM_017028803.1:c.*193C>T | XP_016884292.1:n.*193C>T | |
| XM_017028804.1:c.*193C>T | XP_016884293.1:n.*193C>T | |
| XM_017028805.1:c.*193C>T | XP_016884294.1:n.*193C>T | |
| XM_017028806.1:c.*193C>T | XP_016884295.1:n.*193C>T | |
| NM_002473.6:c.*193C>T MANE Select | NP_002464.1:n.*193C>T |