Linked Data
ClinVar Variation Id:
1324370
ClinVar RCV Id:
RCV001781075
dbSNP Id:
rs530517316
ExAC:
3:165547468 G / A
gnomAD v2:
3-165547468-G-A
gnomAD v3:
3-165829680-G-A
gnomAD v4:
3-165829680-G-A
COSMIC:
COSM1040847
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165829680G>A , CM000665.2:g.165829680G>A | GRCh38 |
| NC_000003.11:g.165547468G>A , CM000665.1:g.165547468G>A | GRCh37 |
| NC_000003.10:g.167030162G>A | NCBI36 |
| NG_009031.1:g.12786C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1354C>T MANE Select | ENSP00000264381.3:p.Arg452Ter | |
| ENST00000264381.7:c.1354C>T | ENSP00000264381.3:p.Arg452Ter | |
| ENST00000479451.5:c.107+7634C>T | ENSP00000418325.1:n.107+7634C>T | |
| ENST00000482958.1:c.1354C>T | ENSP00000419804.1:p.Arg452Ter | |
| ENST00000488954.1:c.107+7634C>T | ENSP00000418504.1:n.107+7634C>T | |
| ENST00000497011.5:c.1354C>T | ENSP00000419505.1:p.Arg452Ter | |
| NM_000055.2:c.1354C>T | NP_000046.1:p.Arg452Ter | |
| XM_005247685.1:c.1477C>T | XP_005247742.1:p.Arg493Ter | |
| NM_000055.3:c.1354C>T | NP_000046.1:p.Arg452Ter | |
| NR_137635.1:n.159+7634C>T | ||
| NR_137636.1:n.1521C>T | ||
| NM_000055.4:c.1354C>T MANE Select | NP_000046.1:p.Arg452Ter | |
| NR_137635.2:n.110+7634C>T | ||
| NR_137636.2:n.1472C>T |