Linked Data
dbSNP Id:
rs1598176416
gnomAD v2:
17-70119716-A-AC
gnomAD v3:
17-72123575-A-AC
gnomAD v4:
17-72123575-A-AC
MyVariant Identifiers:
chr17:g.70119716_70119717insC (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123580dup , CM000679.2:g.72123580dup | GRCh38 |
| NC_000017.10:g.70119721dup , CM000679.1:g.70119721dup | GRCh37 |
| NC_000017.9:g.67631316dup | NCBI36 |
| NG_012490.1:g.7561dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.723dup MANE Select | ENSP00000245479.2:p.Lys242GlnfsTer10 | |
| ENST00000245479.2:c.723dup | ENSP00000245479.2:p.Lys242GlnfsTer10 | |
| NM_000346.3:c.723dup | NP_000337.1:p.Lys242GlnfsTer10 | |
| NM_000346.4:c.723dup MANE Select | NP_000337.1:p.Lys242GlnfsTer10 |