Linked Data
dbSNP Id:
rs58036769
gnomAD v3:
17-63942258-G-GGTGTGTGTGTGTGTGT
gnomAD v4:
17-63942258-G-GGTGTGTGTGTGTGTGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63942280_63942295dup , CM000679.2:g.63942280_63942295dup | GRCh38 |
| NC_000017.10:g.62019640_62019655dup , CM000679.1:g.62019640_62019655dup | GRCh37 |
| NC_000017.9:g.59373372_59373387dup | NCBI36 |
| NG_011699.1:g.35645_35660dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.4289-281_4289-266dup MANE Select | ENSP00000396320.1:n.4289-281_4289-266dup | |
| ENST00000578147.5:c.4289-281_4289-266dup | ENSP00000463963.1:n.4289-281_4289-266dup | |
| NM_000334.4:c.4289-281_4289-266dup MANE Select | NP_000325.4:n.4289-281_4289-266dup | |
| XM_005257566.3:c.4289-281_4289-266dup | XP_005257623.1:n.4289-281_4289-266dup |