Linked Data
dbSNP Id:
rs199787250
gnomAD v2:
18-48605007-A-AT
gnomAD v3:
18-51078637-A-AT
gnomAD v4:
18-51078637-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51078647dup , CM000680.2:g.51078647dup | GRCh38 |
| NC_000018.9:g.48605017dup , CM000680.1:g.48605017dup | GRCh37 |
| NC_000018.8:g.46859015dup | NCBI36 |
| NG_013013.2:g.115608dup , LRG_318:g.115608dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.*180dup | ENSP00000465878.2:n.*180dup | |
| ENST00000589076.6:c.*180dup | ENSP00000466934.2:n.*180dup | |
| ENST00000589941.2:c.*180dup | ENSP00000465874.2:n.*180dup | |
| ENST00000590061.2:c.*180dup | ENSP00000464772.2:n.*180dup | |
| ENST00000593223.2:c.*1836dup | ENSP00000466118.2:n.*1836dup | |
| ENST00000611848.2:c.*491dup | ENSP00000478613.2:n.*491dup | |
| ENST00000684953.1:n.3854dup | ||
| ENST00000685090.1:n.3769dup | ||
| ENST00000685232.1:n.2060dup | ||
| ENST00000688574.1:n.1947dup | ||
| ENST00000691124.1:n.4800dup | ||
| ENST00000342988.8:c.*180dup MANE Select | ENSP00000341551.3:n.*180dup | |
| ENST00000342988.7:c.*180dup | ENSP00000341551.3:n.*180dup | |
| ENST00000398417.6:c.*180dup | ENSP00000381452.1:n.*180dup | |
| ENST00000586253.1:n.561dup | ||
| ENST00000591126.5:n.3840dup | ||
| ENST00000611848.1:c.1152dup | ||
| NM_005359.5:c.*180dup , LRG_318t1:c.*180dup | NP_005350.1:n.*180dup | |
| NM_005359.6:c.*180dup MANE Select | NP_005350.1:n.*180dup |