Linked Data
ClinVar Variation Id:
2930435
ClinVar RCV Id:
RCV003789745
dbSNP Id:
rs770194856
ExAC:
17:37822189 A / AT
gnomAD v2:
17-37822189-A-AT
gnomAD v3:
17-39665936-A-AT
gnomAD v4:
17-39665936-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665937dup , CM000679.2:g.39665937dup | GRCh38 |
| NC_000017.10:g.37822190dup , CM000679.1:g.37822190dup | GRCh37 |
| NC_000017.9:g.35075716dup | NCBI36 |
| NG_008892.1:g.5592dup , LRG_210:g.5592dup | |
| NG_042278.1:g.2957dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.332dup MANE Select | ENSP00000312624.2:p.Gln112ProfsTer24 | |
| ENST00000309889.2:c.332dup | ENSP00000312624.2:p.Gln112ProfsTer24 | |
| ENST00000578283.1:c.260dup | ENSP00000462787.1:p.Gln88ProfsTer24 | |
| NM_003673.3:c.332dup , LRG_210t1:c.332dup | NP_003664.1:p.Gln112ProfsTer24 | |
| NM_003673.4:c.332dup MANE Select | NP_003664.1:p.Gln112ProfsTer24 |