Linked Data
ClinVar Variation Id:
996157
ClinVar RCV Id:
RCV001290451
dbSNP Id:
rs78321762
gnomAD v3:
17-44384112-C-CT
gnomAD v4:
17-44384112-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44384113dup , CM000679.2:g.44384113dup | GRCh38 |
| NC_000017.10:g.42461481dup , CM000679.1:g.42461481dup | GRCh37 |
| NC_000017.9:g.39817007dup | NCBI36 |
| NG_008331.1:g.10393dup , LRG_479:g.10393dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262407.6:c.917dup MANE Select | ENSP00000262407.5:p.Arg307GlufsTer22 | |
| ENST00000648408.1:c.348dup | ||
| ENST00000262407.5:c.917dup | ENSP00000262407.5:p.Arg307GlufsTer22 | |
| ENST00000589645.5:n.368dup | ||
| ENST00000591990.5:n.462dup | ||
| ENST00000592075.5:n.286dup | ||
| ENST00000592226.5:n.157dup | ||
| ENST00000592253.5:n.425dup | ||
| NM_000419.3:c.917dup , LRG_479t1:c.917dup | NP_000410.2:p.Arg307GlufsTer22 | |
| XM_011524749.1:c.917dup | XP_011523051.1:p.Arg307GlufsTer22 | |
| XM_011524750.1:c.917dup | XP_011523052.1:p.Arg307GlufsTer22 | |
| NM_000419.4:c.917dup | NP_000410.2:p.Arg307GlufsTer22 | |
| NM_000419.5:c.917dup MANE Select | NP_000410.2:p.Arg307GlufsTer22 |