Linked Data
ClinVar Variation Id:
433552
dbSNP Id:
rs148677674
ExAC:
22:21349277 C / T
gnomAD v2:
22-21349277-C-T
gnomAD v3:
22-20994988-C-T
gnomAD v4:
22-20994988-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20994988C>T , CM000684.2:g.20994988C>T | GRCh38 |
| NC_000022.10:g.21349277C>T , CM000684.1:g.21349277C>T | GRCh37 |
| NC_000022.9:g.19679277C>T | NCBI36 |
| NG_034193.1:g.17720C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700578.1:c.1904C>T | ENSP00000515073.1:p.Pro635Leu | |
| ENST00000415817.2:c.216C>T | ||
| ENST00000495142.6:n.1537C>T | ||
| ENST00000642151.1:c.1735C>T | ||
| ENST00000643578.1:n.1926C>T | ||
| ENST00000643710.1:n.765C>T | ||
| ENST00000646124.2:c.1904C>T MANE Select | ENSP00000496779.1:p.Pro635Leu | |
| ENST00000646506.1:n.1771C>T | ||
| ENST00000215739.12:c.1904C>T | ENSP00000215739.8:p.Pro635Leu | |
| ENST00000415354.6:c.216C>T | ENSP00000393765.2:p.Ala72= | |
| ENST00000439171.5:c.186C>T | ||
| ENST00000452988.5:c.83C>T | ENSP00000408789.1:p.Pro28Leu | |
| ENST00000464807.1:n.165C>T | ||
| ENST00000479606.5:n.2050C>T | ||
| ENST00000491432.5:n.325C>T | ||
| ENST00000495142.5:n.520C>T | ||
| NM_006767.3:c.1904C>T | NP_006758.2:p.Pro635Leu | |
| NM_006767.4:c.1904C>T MANE Select | NP_006758.2:p.Pro635Leu |