Linked Data
ClinVar Variation Id:
824073
ClinVar RCV Id:
RCV001020888
dbSNP Id:
rs1427690050
gnomAD v2:
12-12871141-C-T
gnomAD v4:
12-12718207-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718207C>T , CM000674.2:g.12718207C>T | GRCh38 |
| NC_000012.11:g.12871141C>T , CM000674.1:g.12871141C>T | GRCh37 |
| NC_000012.10:g.12762408C>T | NCBI36 |
| NG_016341.1:g.5840C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.368C>T | ENSP00000507272.1:p.Ala123Val | |
| ENST00000682620.1:n.1631-618C>T | ||
| ENST00000684771.1:n.585-618C>T | ||
| ENST00000228872.9:c.368C>T MANE Select | ENSP00000228872.4:p.Ala123Val | |
| ENST00000228872.8:c.368C>T | ENSP00000228872.4:p.Ala123Val | |
| ENST00000396340.1:c.368C>T | ENSP00000379629.1:p.Ala123Val | |
| ENST00000442489.1:c.193+154C>T | ENSP00000407597.1:n.193+154C>T | |
| ENST00000477087.1:n.155-618C>T | ||
| NM_004064.4:c.368C>T | NP_004055.1:p.Ala123Val | |
| NM_004064.5:c.368C>T MANE Select | NP_004055.1:p.Ala123Val |