Linked Data
ClinVar Variation Id:
488877
dbSNP Id:
rs149850248
ExAC:
22:21346527 C / T
gnomAD v2:
22-21346527-C-T
gnomAD v3:
22-20992238-C-T
gnomAD v4:
22-20992238-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20992238C>T , CM000684.2:g.20992238C>T | GRCh38 |
| NC_000022.10:g.21346527C>T , CM000684.1:g.21346527C>T | GRCh37 |
| NC_000022.9:g.19676527C>T | NCBI36 |
| NG_034193.1:g.14970C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700578.1:c.1018C>T | ENSP00000515073.1:p.Arg340Ter | |
| ENST00000495142.6:n.363C>T | ||
| ENST00000642151.1:c.849C>T | ||
| ENST00000643578.1:n.1040C>T | ||
| ENST00000646124.2:c.1018C>T MANE Select | ENSP00000496779.1:p.Arg340Ter | |
| ENST00000646506.1:n.597C>T | ||
| ENST00000215739.12:c.1018C>T | ENSP00000215739.8:p.Arg340Ter | |
| ENST00000461510.1:n.119C>T | ||
| ENST00000479606.5:n.1164C>T | ||
| ENST00000492480.1:n.74C>T | ||
| ENST00000497716.5:n.845C>T | ||
| NM_006767.3:c.1018C>T | NP_006758.2:p.Arg340Ter | |
| NM_006767.4:c.1018C>T MANE Select | NP_006758.2:p.Arg340Ter |