Linked Data
dbSNP Id:
rs758992037
ExAC:
17:27822754 T / TA
gnomAD v2:
17-27822754-T-TA
gnomAD v3:
17-29495736-T-TA
gnomAD v4:
17-29495736-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29495743dup , CM000679.2:g.29495743dup | GRCh38 |
| NC_000017.10:g.27822761dup , CM000679.1:g.27822761dup | GRCh37 |
| NC_000017.9:g.24846887dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261716.8:c.999+16dup MANE Select | ENSP00000261716.3:n.999+16dup | |
| ENST00000261716.7:c.999+16dup | ENSP00000261716.3:n.999+16dup | |
| ENST00000536202.1:c.999+16dup | ENSP00000438819.1:n.999+16dup | |
| ENST00000577583.1:n.847+16dup | ||
| NM_020791.2:c.999+16dup | NP_065842.1:n.999+16dup | |
| NM_025142.1:c.999+16dup | NP_079418.1:n.999+16dup | |
| XM_011525060.1:c.999+16dup | XP_011523362.1:n.999+16dup | |
| XM_011525060.2:c.999+16dup | XP_011523362.1:n.999+16dup | |
| NM_020791.4:c.999+16dup MANE Select | NP_065842.1:n.999+16dup |