Linked Data
ClinVar Variation Id:
14583
ClinVar RCV Id:
RCV000015684
dbSNP Id:
rs587776817
PubMed:
PMID:20798280
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40819087dup , CM000679.2:g.40819087dup | GRCh38 |
| NC_000017.10:g.38975339dup , CM000679.1:g.38975339dup | GRCh37 |
| NC_000017.9:g.36228865dup | NCBI36 |
| NG_008405.1:g.8526dup | |
| NG_033147.1:g.4996dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269576.6:c.1449dup MANE Select | ENSP00000269576.5:p.Gly484ArgfsTer? | |
| ENST00000635956.2:c.1449dup | ENSP00000490524.2:p.Gly484ArgfsTer? | |
| ENST00000269576.5:c.1449dup | ENSP00000269576.5:p.Gly484ArgfsTer? | |
| NM_000421.3:c.1449dup | NP_000412.3:p.Gly484ArgfsTer? | |
| XM_005257343.2:c.1449dup | XP_005257400.1:p.Gly484ArgfsTer? | |
| XM_005257343.3:c.1449dup | XP_005257400.1:p.Gly484ArgfsTer? | |
| NM_000421.4:c.1449dup | NP_000412.3:p.Gly484ArgfsTer? | |
| NM_000421.5:c.1449dup MANE Select | NP_000412.4:p.Gly484ArgfsTer? | |
| NM_001379366.1:c.1449dup | NP_001366295.1:p.Gly484ArgfsTer? |