Linked Data
ClinVar Variation Id:
280342
dbSNP Id:
rs550922200
ExAC:
22:21348255 C / T
gnomAD v2:
22-21348255-C-T
gnomAD v3:
22-20993966-C-T
gnomAD v4:
22-20993966-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20993966C>T , CM000684.2:g.20993966C>T | GRCh38 |
| NC_000022.10:g.21348255C>T , CM000684.1:g.21348255C>T | GRCh37 |
| NC_000022.9:g.19678255C>T | NCBI36 |
| NG_034193.1:g.16698C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700578.1:c.1396C>T | ENSP00000515073.1:p.Arg466Trp | |
| ENST00000495142.6:n.741C>T | ||
| ENST00000642151.1:c.1227C>T | ||
| ENST00000643578.1:n.1418C>T | ||
| ENST00000643710.1:n.257C>T | ||
| ENST00000646124.2:c.1396C>T MANE Select | ENSP00000496779.1:p.Arg466Trp | |
| ENST00000646506.1:n.975C>T | ||
| ENST00000215739.12:c.1396C>T | ENSP00000215739.8:p.Arg466Trp | |
| ENST00000479606.5:n.1542C>T | ||
| ENST00000492480.1:n.445C>T | ||
| NM_006767.3:c.1396C>T | NP_006758.2:p.Arg466Trp | |
| NM_006767.4:c.1396C>T MANE Select | NP_006758.2:p.Arg466Trp |