Linked Data
dbSNP Id:
rs1264645683
gnomAD v2:
19-55663484-T-TC
gnomAD v3:
19-55152116-T-TC
gnomAD v4:
19-55152116-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55152121dup , CM000681.2:g.55152121dup | GRCh38 |
| NC_000019.9:g.55663489dup , CM000681.1:g.55663489dup | GRCh37 |
| NC_000019.8:g.60355301dup | NCBI36 |
| NG_007866.2:g.10616dup , LRG_432:g.10616dup | |
| NG_011829.2:g.2122dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.550-200dup MANE Select | ENSP00000341838.5:n.550-200dup | |
| ENST00000665070.1:c.583-200dup | ENSP00000499482.1:n.583-200dup | |
| ENST00000344887.9:c.550-200dup | ENSP00000341838.5:n.550-200dup | |
| ENST00000585806.5:n.549-200dup | ||
| ENST00000588882.1:c.475-200dup | ENSP00000466729.1:n.475-200dup | |
| ENST00000589864.1:n.378-200dup | ||
| NM_000363.4:c.550-200dup , LRG_432t1:c.550-200dup | NP_000354.4:n.550-200dup | |
| NM_000363.5:c.550-200dup MANE Select | NP_000354.4:n.550-200dup |