Linked Data
ClinVar Variation Id:
190170
dbSNP Id:
rs786205174
gnomAD v2:
10-50669477-G-A
gnomAD v4:
10-49461431-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49461431G>A , CM000672.2:g.49461431G>A | GRCh38 |
| NC_000010.10:g.50669477G>A , CM000672.1:g.50669477G>A | GRCh37 |
| NC_000010.9:g.50339483G>A | NCBI36 |
| NG_009442.1:g.82671C>T , LRG_465:g.82671C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3904C>T MANE Select | ENSP00000348089.5:p.Gln1302Ter | |
| ENST00000679552.1:n.975C>T | ||
| ENST00000679871.1:n.1050C>T | ||
| ENST00000679974.1:n.953C>T | ||
| ENST00000681632.1:n.5307C>T | ||
| ENST00000681659.1:c.3745C>T | ENSP00000505631.1:p.Gln1249Ter | |
| ENST00000355832.9:c.3904C>T | ENSP00000348089.5:p.Gln1302Ter | |
| ENST00000465653.1:n.226C>T | ||
| ENST00000623073.3:c.*2200C>T | ENSP00000485650.1:n.*2200C>T | |
| ENST00000623115.3:c.2014C>T | ENSP00000485321.1:p.Gln672Ter | |
| ENST00000624341.3:c.1736C>T | ||
| NM_000124.3:c.3904C>T | NP_000115.1:p.Gln1302Ter | |
| XR_945953.1:n.243-10134G>A | ||
| NM_001346440.1:c.3904C>T | NP_001333369.1:p.Gln1302Ter | |
| NM_000124.4:c.3904C>T MANE Select | NP_000115.1:p.Gln1302Ter | |
| NM_001346440.2:c.3904C>T | NP_001333369.1:p.Gln1302Ter |