Linked Data
ClinVar Variation Id:
372290
dbSNP Id:
rs387906385
ExAC:
1:94508433 G / GAC
gnomAD v2:
1-94508433-G-GAC
gnomAD v3:
1-94042877-G-GAC
gnomAD v4:
1-94042877-G-GAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94042879_94042880dup , CM000663.2:g.94042879_94042880dup | GRCh38 |
| NC_000001.10:g.94508435_94508436dup , CM000663.1:g.94508435_94508436dup | GRCh37 |
| NC_000001.9:g.94281023_94281024dup | NCBI36 |
| NG_009073.1:g.83271_83272dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.3210_3211dup MANE Select | ENSP00000359245.3:p.Ser1071CysfsTer14 | |
| ENST00000370225.3:c.3210_3211dup | ENSP00000359245.3:p.Ser1071CysfsTer14 | |
| ENST00000536513.5:c.-64-2790_-64-2789dup | ENSP00000439707.2:n.-64-2790_-64-2789dup | |
| NM_000350.2:c.3210_3211dup | NP_000341.2:p.Ser1071CysfsTer14 | |
| NM_000350.3:c.3210_3211dup MANE Select | NP_000341.2:p.Ser1071CysfsTer14 |