Linked Data
ClinVar Variation Id:
1752713
dbSNP Id:
rs1229515408
gnomAD v2:
12-12870835-C-T
gnomAD v3:
12-12717901-C-T
gnomAD v4:
12-12717901-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12717901C>T , CM000674.2:g.12717901C>T | GRCh38 |
| NC_000012.11:g.12870835C>T , CM000674.1:g.12870835C>T | GRCh37 |
| NC_000012.10:g.12762102C>T | NCBI36 |
| NG_016341.1:g.5534C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.62C>T | ENSP00000507272.1:p.Ala21Val | |
| ENST00000682620.1:n.1631-924C>T | ||
| ENST00000684771.1:n.585-924C>T | ||
| ENST00000228872.9:c.62C>T MANE Select | ENSP00000228872.4:p.Ala21Val | |
| ENST00000228872.8:c.62C>T | ENSP00000228872.4:p.Ala21Val | |
| ENST00000396340.1:c.62C>T | ENSP00000379629.1:p.Ala21Val | |
| ENST00000442489.1:c.41C>T | ENSP00000407597.1:p.Ala14Val | |
| ENST00000477087.1:n.155-924C>T | ||
| NM_004064.4:c.62C>T | NP_004055.1:p.Ala21Val | |
| NM_004064.5:c.62C>T MANE Select | NP_004055.1:p.Ala21Val |