Linked Data
ClinVar Variation Id:
678647
ClinVar RCV Id:
RCV000838249
dbSNP Id:
rs5993856
ExAC:
22:19882630 G / A
gnomAD v2:
22-19882630-G-A
gnomAD v3:
22-19895107-G-A
gnomAD v4:
22-19895107-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19895107G>A , CM000684.2:g.19895107G>A | GRCh38 |
| NC_000022.10:g.19882630G>A , CM000684.1:g.19882630G>A | GRCh37 |
| NC_000022.9:g.18262630G>A | NCBI36 |
| NG_011835.1:g.51730C>T , LRG_417:g.51730C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.949+300C>T MANE Select | ENSP00000383365.1:n.949+300C>T | |
| ENST00000334363.14:c.*26C>T | ENSP00000334451.9:n.*26C>T | |
| ENST00000400518.5:c.859+300C>T | ENSP00000383362.1:n.859+300C>T | |
| ENST00000400519.6:c.946+300C>T | ENSP00000383363.1:n.946+300C>T | |
| ENST00000400521.6:c.949+300C>T | ENSP00000383365.1:n.949+300C>T | |
| ENST00000400525.6:c.880+300C>T | ENSP00000383369.3:n.880+300C>T | |
| ENST00000474308.5:c.892+300C>T | ENSP00000485665.1:n.892+300C>T | |
| ENST00000475995.3:c.660C>T | ||
| ENST00000491939.6:c.*26C>T | ENSP00000485543.1:n.*26C>T | |
| ENST00000494454.5:n.1023+300C>T | ||
| ENST00000542719.6:c.661+300C>T | ENSP00000485128.2:n.661+300C>T | |
| ENST00000634537.1:c.178+300C>T | ENSP00000489208.1:n.178+300C>T | |
| ENST00000635155.1:n.535+300C>T | ||
| NM_001282512.1:c.*26C>T | NP_001269441.1:n.*26C>T | |
| NM_006440.4:c.949+300C>T | NP_006431.2:n.949+300C>T | |
| NM_001282512.2:c.*26C>T | NP_001269441.1:n.*26C>T | |
| NM_001352300.1:c.946+300C>T | NP_001339229.1:n.946+300C>T | |
| NM_001352301.1:c.859+300C>T | NP_001339230.1:n.859+300C>T | |
| NM_001352302.1:c.661+300C>T | NP_001339231.1:n.661+300C>T | |
| NM_001352303.1:c.*26C>T | NP_001339232.1:n.*26C>T | |
| NR_147957.1:n.1081+300C>T | ||
| NM_006440.5:c.949+300C>T MANE Select | NP_006431.2:n.949+300C>T | |
| NM_001282512.3:c.*26C>T | NP_001269441.1:n.*26C>T | |
| NM_001352300.2:c.946+300C>T | NP_001339229.1:n.946+300C>T | |
| NR_147957.2:n.907+300C>T | ||
| NM_001352301.2:c.859+300C>T | NP_001339230.1:n.859+300C>T | |
| NM_001352302.2:c.661+300C>T | NP_001339231.1:n.661+300C>T | |
| NM_001352303.2:c.*26C>T | NP_001339232.1:n.*26C>T |