Linked Data
ClinVar Variation Id:
56902
ClinVar RCV Id:
RCV000050239
dbSNP Id:
rs879255239
PubMed:
PMID:23738509
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.23566954dup , CM000677.2:g.23566954dup | GRCh38 |
| NC_000015.9:g.23812101dup , CM000677.1:g.23812101dup | GRCh37 |
| NC_000015.8:g.21363194dup | NCBI36 |
| NG_012875.2:g.6648dup | |
| NG_012875.3:g.6648dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314520.6:c.1172dup MANE Select | ENSP00000313881.3:p.Tyr391Ter | |
| ENST00000564592.2:c.452dup | ENSP00000455368.1:p.Tyr151Ter | |
| ENST00000647595.1:c.51+1121dup | ENSP00000496869.1:n.51+1121dup | |
| ENST00000649065.1:c.452dup | ENSP00000496859.1:p.Tyr151Ter | |
| ENST00000676568.1:c.927+245dup | ENSP00000502884.1:n.927+245dup | |
| ENST00000677119.1:c.305+867dup | ENSP00000503815.1:n.305+867dup | |
| ENST00000677372.1:c.395dup | ||
| ENST00000678440.1:c.1074dup | ENSP00000503032.1:n.1074dup | |
| ENST00000679144.1:c.305+867dup | ENSP00000504844.1:n.305+867dup | |
| ENST00000314520.4:c.1172dup | ENSP00000313881.3:p.Tyr391Ter | |
| ENST00000564592.1:c.452dup | ENSP00000455368.1:p.Tyr151Ter | |
| ENST00000568252.1:c.305+867dup | ENSP00000456779.1:n.305+867dup | |
| ENST00000568945.2:n.400dup | ||
| ENST00000570112.1:c.*111dup | ENSP00000457884.1:n.*111dup | |
| NM_005664.3:c.1172dup | NP_005655.1:p.Tyr391Ter | |
| NM_005664.4:c.1172dup MANE Select | NP_005655.1:p.Tyr391Ter |