Linked Data
ClinVar Variation Id:
289969
ClinVar RCV Id:
RCV000329167
RCV000736158
RCV000763074
RCV001193024
RCV001706423
RCV001799649
RCV001813447
RCV002252087
RCV003387519
RCV002429235
dbSNP Id:
rs189150283
ExAC:
22:21346593 C / T
gnomAD v2:
22-21346593-C-T
gnomAD v3:
22-20992304-C-T
gnomAD v4:
22-20992304-C-T
ERepo:
CA10118715/MONDO:0021060/094
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20992304C>T , CM000684.2:g.20992304C>T | GRCh38 |
| NC_000022.10:g.21346593C>T , CM000684.1:g.21346593C>T | GRCh37 |
| NC_000022.9:g.19676593C>T | NCBI36 |
| NG_034193.1:g.15036C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700578.1:c.1084C>T | ENSP00000515073.1:p.Arg362Ter | |
| ENST00000495142.6:n.429C>T | ||
| ENST00000642151.1:c.915C>T | ||
| ENST00000643578.1:n.1106C>T | ||
| ENST00000646124.2:c.1084C>T MANE Select | ENSP00000496779.1:p.Arg362Ter | |
| ENST00000646506.1:n.663C>T | ||
| ENST00000215739.12:c.1084C>T | ENSP00000215739.8:p.Arg362Ter | |
| ENST00000461510.1:n.185C>T | ||
| ENST00000479606.5:n.1230C>T | ||
| ENST00000492480.1:n.140C>T | ||
| ENST00000497716.5:n.911C>T | ||
| NM_006767.3:c.1084C>T | NP_006758.2:p.Arg362Ter | |
| NM_006767.4:c.1084C>T MANE Select | NP_006758.2:p.Arg362Ter |