Linked Data
ClinVar Variation Id:
65774
ClinVar RCV Id:
RCV000056012
dbSNP Id:
rs397515580
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26484499dup , CM000664.2:g.26484499dup | GRCh38 |
| NC_000002.11:g.26707367dup , CM000664.1:g.26707367dup | GRCh37 |
| NC_000002.10:g.26560871dup | NCBI36 |
| NG_009937.1:g.79200dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272371.7:c.1180dup MANE Select | ENSP00000272371.2:p.Glu394GlyfsTer6 | |
| ENST00000272371.6:c.1180dup | ENSP00000272371.2:p.Glu394GlyfsTer6 | |
| ENST00000403946.7:c.1180dup | ENSP00000385255.3:p.Glu394GlyfsTer6 | |
| NM_001287489.1:c.1180dup | NP_001274418.1:p.Glu394GlyfsTer6 | |
| NM_194248.2:c.1180dup | NP_919224.1:p.Glu394GlyfsTer6 | |
| XM_005264644.2:c.1225dup | XP_005264701.1:p.Glu409GlyfsTer6 | |
| XM_011533185.1:c.1225dup | XP_011531487.1:p.Glu409GlyfsTer6 | |
| XM_017005338.1:c.1180dup | XP_016860827.1:p.Glu394GlyfsTer6 | |
| NM_001287489.2:c.1180dup | NP_001274418.1:p.Glu394GlyfsTer6 | |
| NM_194248.3:c.1180dup MANE Select | NP_919224.1:p.Glu394GlyfsTer6 |