Linked Data
ClinVar Variation Id:
1333412
ClinVar RCV Id:
RCV001808100
dbSNP Id:
rs779139147
ExAC:
6:24503615 C / T
gnomAD v2:
6-24503615-C-T
gnomAD v4:
6-24503387-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24503387C>T , CM000668.2:g.24503387C>T | GRCh38 |
| NC_000006.11:g.24503615C>T , CM000668.1:g.24503615C>T | GRCh37 |
| NC_000006.10:g.24611594C>T | NCBI36 |
| NG_008161.1:g.13419C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.563C>T MANE Select | ENSP00000350191.3:p.Ala188Val | |
| ENST00000672352.1:c.326C>T | ENSP00000500876.1:p.Ala109Val | |
| ENST00000672557.1:c.481C>T | ||
| ENST00000672652.1:c.484C>T | ||
| ENST00000675422.1:n.1323C>T | ||
| ENST00000348925.2:c.563C>T | ENSP00000314649.3:p.Ala188Val | |
| ENST00000357578.7:c.563C>T | ENSP00000350191.3:p.Ala188Val | |
| ENST00000491546.5:c.479C>T | ENSP00000417687.1:p.Ala160Val | |
| NM_001080.3:c.563C>T MANE Select | NP_001071.1:p.Ala188Val | |
| NM_170740.1:c.563C>T | NP_733936.1:p.Ala188Val | |
| NM_001368954.1:c.563C>T | NP_001355883.1:p.Ala188Val |