Linked Data
dbSNP Id:
rs2109691633
gnomAD v3:
4-40354163-G-GCACCACAGTAGAGAGCGGGAC
gnomAD v4:
4-40354163-G-GCACCACAGTAGAGAGCGGGAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40354168_40354188dup , CM000666.2:g.40354168_40354188dup | GRCh38 |
| NC_000004.11:g.40356185_40356205dup , CM000666.1:g.40356185_40356205dup | GRCh37 |
| NC_000004.10:g.40050942_40050962dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310169.3:c.1088_1108dup MANE Select | ENSP00000312663.2:p.His369_Leu370insHisSerArgGluArgAspHis | |
| ENST00000310169.2:c.1088_1108dup | ENSP00000312663.2:p.His369_Leu370insHisSerArgGluArgAspHis | |
| NM_017581.3:c.1088_1108dup | NP_060051.2:p.His369_Leu370insHisSerArgGluArgAspHis | |
| NM_017581.4:c.1088_1108dup MANE Select | NP_060051.2:p.His369_Leu370insHisSerArgGluArgAspHis |