Linked Data
dbSNP Id:
rs908696323
gnomAD v3:
19-45407217-C-T
gnomAD v4:
19-45407217-C-T
COSMIC:
COSM5550045
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45407217C>T , CM000681.2:g.45407217C>T | GRCh38 |
| NC_000019.9:g.45910475C>T , CM000681.1:g.45910475C>T | GRCh37 |
| NC_000019.8:g.50602315C>T | NCBI36 |
| NG_015839.2:g.76612G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309424.8:c.146C>T MANE Select | ENSP00000310966.3:p.Ala49Val | |
| ENST00000309424.7:c.146C>T | ENSP00000310966.3:p.Ala49Val | |
| ENST00000589804.1:c.152C>T | ENSP00000465099.1:p.Ala51Val | |
| ENST00000590794.1:c.20+499C>T | ||
| ENST00000592852.1:c.-389C>T | ENSP00000467771.1:n.-389C>T | |
| NM_001297590.1:c.152C>T | NP_001284519.1:p.Ala51Val | |
| NM_012099.1:c.146C>T | NP_036231.1:p.Ala49Val | |
| NM_001297590.2:c.152C>T | NP_001284519.1:p.Ala51Val | |
| NM_012099.2:c.146C>T | NP_036231.1:p.Ala49Val | |
| NM_001297590.3:c.152C>T | NP_001284519.1:p.Ala51Val | |
| NM_012099.3:c.146C>T MANE Select | NP_036231.1:p.Ala49Val |