Linked Data
dbSNP Id:
rs1393142136
gnomAD v2:
17-27860925-A-AT
gnomAD v3:
17-29533907-A-AT
gnomAD v4:
17-29533907-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29533908dup , CM000679.2:g.29533908dup | GRCh38 |
| NC_000017.10:g.27860926dup , CM000679.1:g.27860926dup | GRCh37 |
| NC_000017.9:g.24885052dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261716.8:c.2362-210dup MANE Select | ENSP00000261716.3:n.2362-210dup | |
| ENST00000261716.7:c.2362-210dup | ENSP00000261716.3:n.2362-210dup | |
| ENST00000536202.1:c.1918-210dup | ENSP00000438819.1:n.1918-210dup | |
| NM_020791.2:c.2362-210dup | NP_065842.1:n.2362-210dup | |
| NM_025142.1:c.1918-210dup | NP_079418.1:n.1918-210dup | |
| XM_011525060.1:c.2362-210dup | XP_011523362.1:n.2362-210dup | |
| XM_011525060.2:c.2362-210dup | XP_011523362.1:n.2362-210dup | |
| NM_020791.4:c.2362-210dup MANE Select | NP_065842.1:n.2362-210dup |