Linked Data
ClinVar Variation Id:
449349
ClinVar RCV Id:
RCV000761653
RCV001351725
RCV003446133
RCV003446130
RCV003446131
RCV003446132
RCV003446129
dbSNP Id:
rs1205631854
gnomAD v2:
1-43394946-C-A
gnomAD v3:
1-42929275-C-A
gnomAD v4:
1-42929275-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929275C>A , CM000663.2:g.42929275C>A | GRCh38 |
| NC_000001.10:g.43394946C>A , CM000663.1:g.43394946C>A | GRCh37 |
| NC_000001.9:g.43167533C>A | NCBI36 |
| NG_008232.1:g.34902G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.907G>T MANE Select | ENSP00000416293.2:p.Val303Leu | |
| ENST00000674545.1:n.225G>T | ||
| ENST00000674765.1:c.907G>T | ENSP00000501811.1:p.Val303Leu | |
| ENST00000675112.1:n.1208G>T | ||
| ENST00000676254.1:n.1356G>T | ||
| ENST00000426263.7:c.907G>T | ENSP00000416293.2:p.Val303Leu | |
| ENST00000439722.2:c.786G>T | ENSP00000395521.2:n.786G>T | |
| ENST00000475162.3:c.415+1351G>T | ||
| ENST00000630287.2:c.*222G>T | ENSP00000486694.1:n.*222G>T | |
| NM_006516.2:c.907G>T | NP_006507.2:p.Val303Leu | |
| NM_006516.3:c.907G>T | NP_006507.2:p.Val303Leu | |
| NM_006516.4:c.907G>T MANE Select | NP_006507.2:p.Val303Leu |