Linked Data
ClinVar Variation Id:
2165379
ClinVar RCV Id:
RCV003084341
dbSNP Id:
rs896726886
gnomAD v4:
10-49500682-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49500682C>A , CM000672.2:g.49500682C>A | GRCh38 |
| NC_000010.10:g.50708728C>A , CM000672.1:g.50708728C>A | GRCh37 |
| NC_000010.9:g.50378734C>A | NCBI36 |
| NG_009442.1:g.43420G>T , LRG_465:g.43420G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355832.10:c.1541G>T MANE Select | ENSP00000348089.5:p.Gly514Val | |
| ENST00000681632.1:n.1619G>T | ||
| ENST00000681659.1:c.1526+5202G>T | ENSP00000505631.1:n.1526+5202G>T | |
| ENST00000355832.9:c.1541G>T | ENSP00000348089.5:p.Gly514Val | |
| ENST00000475116.1:n.131G>T | ||
| ENST00000623073.3:c.-59G>T | ENSP00000485650.1:n.-59G>T | |
| ENST00000623115.3:c.-214G>T | ENSP00000485321.1:n.-214G>T | |
| ENST00000623318.1:c.-59G>T | ENSP00000485423.1:n.-59G>T | |
| ENST00000623788.1:n.540G>T | ||
| NM_000124.3:c.1541G>T | NP_000115.1:p.Gly514Val | |
| NM_001346440.1:c.1541G>T | NP_001333369.1:p.Gly514Val | |
| NM_000124.4:c.1541G>T MANE Select | NP_000115.1:p.Gly514Val | |
| NM_001346440.2:c.1541G>T | NP_001333369.1:p.Gly514Val |