Linked Data
ClinVar Variation Id:
1388169
ClinVar RCV Id:
RCV001884429
dbSNP Id:
rs1205631854
gnomAD v4:
1-42929275-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929275C>T , CM000663.2:g.42929275C>T | GRCh38 |
| NC_000001.10:g.43394946C>T , CM000663.1:g.43394946C>T | GRCh37 |
| NC_000001.9:g.43167533C>T | NCBI36 |
| NG_008232.1:g.34902G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.907G>A MANE Select | ENSP00000416293.2:p.Val303Met | |
| ENST00000674545.1:n.225G>A | ||
| ENST00000674765.1:c.907G>A | ENSP00000501811.1:p.Val303Met | |
| ENST00000675112.1:n.1208G>A | ||
| ENST00000676254.1:n.1356G>A | ||
| ENST00000426263.7:c.907G>A | ENSP00000416293.2:p.Val303Met | |
| ENST00000439722.2:c.786G>A | ENSP00000395521.2:n.786G>A | |
| ENST00000475162.3:c.415+1351G>A | ||
| ENST00000630287.2:c.*222G>A | ENSP00000486694.1:n.*222G>A | |
| NM_006516.2:c.907G>A | NP_006507.2:p.Val303Met | |
| NM_006516.3:c.907G>A | NP_006507.2:p.Val303Met | |
| NM_006516.4:c.907G>A MANE Select | NP_006507.2:p.Val303Met |