Linked Data
ClinVar Variation Id:
2742848
ClinVar RCV Id:
RCV003558127
dbSNP Id:
rs1388047905
gnomAD v2:
10-99359826-G-T
gnomAD v3:
10-97600069-G-T
gnomAD v4:
10-97600069-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97600069G>T , CM000672.2:g.97600069G>T | GRCh38 |
| NC_000010.10:g.99359826G>T , CM000672.1:g.99359826G>T | GRCh37 |
| NC_000010.9:g.99349816G>T | NCBI36 |
| NG_027922.1:g.20725G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370646.9:c.606G>T MANE Select | ENSP00000359680.4:p.Val202= | |
| ENST00000370642.4:c.16G>T | ||
| ENST00000370646.8:c.606G>T | ENSP00000359680.4:p.Val202= | |
| ENST00000370647.8:c.212-1788G>T | ENSP00000359681.4:n.212-1788G>T | |
| ENST00000370649.3:c.212-1788G>T | ENSP00000359683.3:n.212-1788G>T | |
| ENST00000465608.1:n.1702G>T | ||
| NM_001134670.1:c.212-1788G>T | NP_001128142.1:n.212-1788G>T | |
| NM_138413.3:c.606G>T | NP_612422.2:p.Val202= | |
| NM_138413.4:c.606G>T MANE Select | NP_612422.2:p.Val202= | |
| NM_001134670.2:c.212-1788G>T | NP_001128142.1:n.212-1788G>T |