Linked Data
ClinVar Variation Id:
1043157
ClinVar RCV Id:
RCV001347227
dbSNP Id:
rs1947355480
gnomAD v4:
12-4912048-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912048G>T , CM000674.2:g.4912048G>T | GRCh38 |
| NC_000012.11:g.5021214G>T , CM000674.1:g.5021214G>T | GRCh37 |
| NC_000012.10:g.4891475G>T | NCBI36 |
| NG_011815.1:g.7142G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.670G>T MANE Select | ENSP00000371985.3:p.Val224Leu | |
| ENST00000543874.3:n.105+1576G>T | ||
| ENST00000639306.1:c.508G>T | ENSP00000492506.1:p.Val170Leu | |
| ENST00000382545.3:c.670G>T | ENSP00000371985.3:p.Val224Leu | |
| ENST00000541095.1:n.105+1576G>T | ||
| ENST00000543874.2:n.96+1576G>T | ||
| NM_000217.2:c.670G>T | NP_000208.2:p.Val224Leu | |
| NM_000217.3:c.670G>T MANE Select | NP_000208.2:p.Val224Leu |