Linked Data
ClinVar Variation Id:
2973229
ClinVar RCV Id:
RCV003830323
dbSNP Id:
rs2113819242
gnomAD v4:
6-3225584-C-T
COSMIC:
COSM483905
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225584C>T , CM000668.2:g.3225584C>T | GRCh38 |
| NC_000006.11:g.3225818C>T , CM000668.1:g.3225818C>T | GRCh37 |
| NC_000006.10:g.3170817C>T | NCBI36 |
| NG_016715.1:g.7151G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.505G>A MANE Select | ENSP00000259818.6:p.Val169Ile | |
| ENST00000680070.1:n.1435G>A | ||
| ENST00000681707.1:n.1332G>A | ||
| ENST00000681757.1:n.810G>A | ||
| ENST00000259818.7:c.505G>A | ENSP00000259818.6:p.Val169Ile | |
| ENST00000473006.1:n.622G>A | ||
| NM_178012.4:c.505G>A | NP_821080.1:p.Val169Ile | |
| XM_011514571.1:c.289G>A | XP_011512873.1:p.Val97Ile | |
| NM_178012.5:c.505G>A MANE Select | NP_821080.1:p.Val169Ile |