Linked Data
ClinVar Variation Id:
21631
ClinVar RCV Id:
RCV000020821
dbSNP Id:
rs199422191
PubMed:
PMID:20301772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197090348dup , CM000663.2:g.197090348dup | GRCh38 |
| NC_000001.10:g.197059478dup , CM000663.1:g.197059478dup | GRCh37 |
| NC_000001.9:g.195326101dup | NCBI36 |
| NG_015867.1:g.61347dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367408.6:n.2964dup | ||
| ENST00000367409.9:c.9677dup MANE Select | ENSP00000356379.4:p.Cys3226TrpfsTer5 | |
| ENST00000680265.1:c.9899dup | ENSP00000505384.1:p.Cys3300TrpfsTer5 | |
| ENST00000680710.1:c.9653dup | ENSP00000506676.1:p.Cys3218TrpfsTer5 | |
| ENST00000294732.11:c.4922dup | ENSP00000294732.7:p.Cys1641TrpfsTer5 | |
| ENST00000367408.5:c.2672dup | ENSP00000356378.1:p.Cys891TrpfsTer5 | |
| ENST00000367409.8:c.9677dup | ENSP00000356379.4:p.Cys3226TrpfsTer5 | |
| ENST00000612785.1:c.3635dup | ENSP00000479244.1:p.Cys1212TrpfsTer5 | |
| NM_001206846.1:c.4922dup | NP_001193775.1:p.Cys1641TrpfsTer5 | |
| NM_018136.4:c.9677dup | NP_060606.3:p.Cys3226TrpfsTer5 | |
| NM_018136.5:c.9677dup MANE Select | NP_060606.3:p.Cys3226TrpfsTer5 | |
| NM_001206846.2:c.4922dup | NP_001193775.1:p.Cys1641TrpfsTer5 |