Linked Data
ClinVar Variation Id:
522800
dbSNP Id:
rs761685529
ExAC:
22:21349779 C / T
gnomAD v2:
22-21349779-C-T
gnomAD v3:
22-20995490-C-T
gnomAD v4:
22-20995490-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20995490C>T , CM000684.2:g.20995490C>T | GRCh38 |
| NC_000022.10:g.21349779C>T , CM000684.1:g.21349779C>T | GRCh37 |
| NC_000022.9:g.19679779C>T | NCBI36 |
| NG_034193.1:g.18222C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700578.1:c.1943-256C>T | ENSP00000515073.1:n.1943-256C>T | |
| ENST00000415817.2:c.371+6C>T | ||
| ENST00000495142.6:n.2039C>T | ||
| ENST00000642151.1:c.1774-256C>T | ||
| ENST00000643578.1:n.1965-256C>T | ||
| ENST00000643710.1:n.804-256C>T | ||
| ENST00000646124.2:c.1943-256C>T MANE Select | ENSP00000496779.1:n.1943-256C>T | |
| ENST00000646506.1:n.1810-256C>T | ||
| ENST00000215739.12:c.1943-256C>T | ENSP00000215739.8:n.1943-256C>T | |
| ENST00000415354.6:c.371+6C>T | ENSP00000393765.2:n.371+6C>T | |
| ENST00000439171.5:c.341+6C>T | ||
| ENST00000452988.5:c.122-273C>T | ENSP00000408789.1:n.122-273C>T | |
| ENST00000463909.1:n.402C>T | ||
| ENST00000479606.5:n.2089-256C>T | ||
| ENST00000491432.5:n.364-256C>T | ||
| ENST00000495142.5:n.559-256C>T | ||
| NM_006767.3:c.1943-256C>T | NP_006758.2:n.1943-256C>T | |
| NM_006767.4:c.1943-256C>T MANE Select | NP_006758.2:n.1943-256C>T |