Linked Data
ClinVar Variation Id:
344096
ClinVar RCV Id:
RCV003126691
dbSNP Id:
rs774072493
ExAC:
3:165548386 A / AC
gnomAD v2:
3-165548386-A-AC
gnomAD v3:
3-165830598-A-AC
gnomAD v4:
3-165830598-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165830598_165830599insC , CM000665.2:g.165830598_165830599insC | GRCh38 |
| NC_000003.11:g.165548386_165548387insC , CM000665.1:g.165548386_165548387insC | GRCh37 |
| NC_000003.10:g.167031080_167031081insC | NCBI36 |
| NG_009031.1:g.11867_11868insG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264381.8:c.435_436insG MANE Select | ENSP00000264381.3:p.Phe146ValfsTer12 | |
| ENST00000264381.7:c.435_436insG | ENSP00000264381.3:p.Phe146ValfsTer12 | |
| ENST00000479451.5:c.107+6715_107+6716insG | ENSP00000418325.1:n.107+6715_107+6716insG... | |
| ENST00000482958.1:c.435_436insG | ENSP00000419804.1:p.Phe146ValfsTer12 | |
| ENST00000488954.1:c.107+6715_107+6716insG | ENSP00000418504.1:n.107+6715_107+6716insG... | |
| ENST00000497011.5:c.435_436insG | ENSP00000419505.1:p.Phe146ValfsTer12 | |
| NM_000055.2:c.435_436insG | NP_000046.1:p.Phe146ValfsTer12 | |
| XM_005247685.1:c.558_559insG | XP_005247742.1:p.Phe187ValfsTer12 | |
| NM_000055.3:c.435_436insG | NP_000046.1:p.Phe146ValfsTer12 | |
| NR_137635.1:n.159+6715_159+6716insG | ||
| NR_137636.1:n.602_603insG | ||
| NM_000055.4:c.435_436insG MANE Select | NP_000046.1:p.Phe146ValfsTer12 | |
| NR_137635.2:n.110+6715_110+6716insG | ||
| NR_137636.2:n.553_554insG |