Linked Data
ClinVar Variation Id:
56904
dbSNP Id:
rs763195944
ExAC:
15:23811404 G / GC
gnomAD v2:
15-23811404-G-GC
gnomAD v3:
15-23566257-G-GC
gnomAD v4:
15-23566257-G-GC
COSMIC:
COSM1372057
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.23566264dup , CM000677.2:g.23566264dup | GRCh38 |
| NC_000015.9:g.23811411dup , CM000677.1:g.23811411dup | GRCh37 |
| NC_000015.8:g.21362504dup | NCBI36 |
| NG_012875.2:g.5958dup | |
| NG_012875.3:g.5958dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314520.6:c.482dup MANE Select | ENSP00000313881.3:p.Ala162GlyfsTer15 | |
| ENST00000564592.2:c.305+177dup | ENSP00000455368.1:n.305+177dup | |
| ENST00000647595.1:c.51+431dup | ENSP00000496869.1:n.51+431dup | |
| ENST00000649065.1:c.305+177dup | ENSP00000496859.1:n.305+177dup | |
| ENST00000676568.1:c.482dup | ENSP00000502884.1:p.Ala162GlyfsTer15 | |
| ENST00000677119.1:c.305+177dup | ENSP00000503815.1:n.305+177dup | |
| ENST00000678440.1:c.482dup | ENSP00000503032.1:p.Ala162GlyfsTer15 | |
| ENST00000679144.1:c.305+177dup | ENSP00000504844.1:n.305+177dup | |
| ENST00000314520.4:c.482dup | ENSP00000313881.3:p.Ala162GlyfsTer15 | |
| ENST00000564592.1:c.305+177dup | ENSP00000455368.1:n.305+177dup | |
| ENST00000568252.1:c.305+177dup | ENSP00000456779.1:n.305+177dup | |
| ENST00000570112.1:c.51+431dup | ENSP00000457884.1:n.51+431dup | |
| ENST00000626930.1:c.29+80dup | ENSP00000486685.1:n.29+80dup | |
| NM_005664.3:c.482dup | NP_005655.1:p.Ala162GlyfsTer15 | |
| NM_005664.4:c.482dup MANE Select | NP_005655.1:p.Ala162GlyfsTer15 |