Linked Data
ClinVar Variation Id:
1477743
ClinVar RCV Id:
RCV001971744
dbSNP Id:
rs781938600
ExAC:
10:48389109 G / A
gnomAD v2:
10-48389109-G-A
gnomAD v3:
10-47350253-C-T
gnomAD v4:
10-47350253-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350253C>T , CM000672.2:g.47350253C>T | GRCh38 |
| NC_000010.10:g.48389109G>A , CM000672.1:g.48389109G>A | GRCh37 |
| NC_000010.9:g.48009115G>A | NCBI36 |
| NG_029718.1:g.6883C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1769C>T MANE Select | ENSP00000463151.1:p.Ala590Val | |
| ENST00000584701.1:c.1769C>T | ENSP00000463151.1:p.Ala590Val | |
| NM_002900.2:c.1769C>T | NP_002891.1:p.Ala590Val | |
| NM_002900.3:c.1769C>T MANE Select | NP_002891.1:p.Ala590Val |