Linked Data
ClinVar Variation Id:
516186
dbSNP Id:
rs190714197
ExAC:
22:21348473 C / T
gnomAD v2:
22-21348473-C-T
gnomAD v3:
22-20994184-C-T
gnomAD v4:
22-20994184-C-T
MyVariant Identifiers:
chr22:g.21348473C>T (hg19)
chr22:g.21348473_21348474delinsTG (hg19)
chr22:g.20994184C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20994184C>T , CM000684.2:g.20994184C>T | GRCh38 |
| NC_000022.10:g.21348473C>T , CM000684.1:g.21348473C>T | GRCh37 |
| NC_000022.9:g.19678473C>T | NCBI36 |
| NG_034193.1:g.16916C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700578.1:c.1530C>T | ENSP00000515073.1:p.His510= | |
| ENST00000495142.6:n.875C>T | ||
| ENST00000642151.1:c.1361C>T | ||
| ENST00000643578.1:n.1552C>T | ||
| ENST00000643710.1:n.391C>T | ||
| ENST00000646124.2:c.1530C>T MANE Select | ENSP00000496779.1:p.His510= | |
| ENST00000646506.1:n.1109C>T | ||
| ENST00000215739.12:c.1530C>T | ENSP00000215739.8:p.His510= | |
| ENST00000479606.5:n.1676C>T | ||
| ENST00000492480.1:n.579C>T | ||
| NM_006767.3:c.1530C>T | NP_006758.2:p.His510= | |
| NM_006767.4:c.1530C>T MANE Select | NP_006758.2:p.His510= |