Linked Data
dbSNP Id:
rs990747422
gnomAD v2:
22-37581195-T-TCC
gnomAD v3:
22-37185155-T-TCC
gnomAD v4:
22-37185155-T-TCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37185157_37185158dup , CM000684.2:g.37185157_37185158dup | GRCh38 |
| NC_000022.10:g.37581197_37581198dup , CM000684.1:g.37581197_37581198dup | GRCh37 |
| NC_000022.9:g.35911143_35911144dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337843.7:c.289+61_289+62dup MANE Select | ENSP00000338812.2:n.289+61_289+62dup | |
| ENST00000337843.6:c.289+61_289+62dup | ENSP00000338812.2:n.289+61_289+62dup | |
| ENST00000397110.6:c.289+61_289+62dup | ENSP00000380299.2:n.289+61_289+62dup | |
| ENST00000434784.1:c.289+61_289+62dup | ENSP00000399243.1:n.289+61_289+62dup | |
| ENST00000470655.5:n.3779+61_3779+62dup | ||
| ENST00000493023.1:n.731+61_731+62dup | ||
| NM_031910.3:c.289+61_289+62dup | NP_114116.3:n.289+61_289+62dup | |
| NM_182486.1:c.289+61_289+62dup | NP_872292.1:n.289+61_289+62dup | |
| XM_006724125.2:c.232+61_232+62dup | XP_006724188.1:n.232+61_232+62dup | |
| XM_011529857.1:c.232+61_232+62dup | XP_011528159.1:n.232+61_232+62dup | |
| NM_001365878.1:c.232+61_232+62dup | NP_001352807.1:n.232+61_232+62dup | |
| XM_011529857.2:c.232+61_232+62dup | XP_011528159.1:n.232+61_232+62dup | |
| XM_017028569.1:c.289+61_289+62dup | XP_016884058.1:n.289+61_289+62dup | |
| XM_024452150.1:c.289+61_289+62dup | XP_024307918.1:n.289+61_289+62dup | |
| XM_024452151.1:c.289+61_289+62dup | XP_024307919.1:n.289+61_289+62dup | |
| XM_024452152.1:c.289+61_289+62dup | XP_024307920.1:n.289+61_289+62dup | |
| XM_024452153.1:c.289+61_289+62dup | XP_024307921.1:n.289+61_289+62dup | |
| XM_024452154.1:c.289+61_289+62dup | XP_024307922.1:n.289+61_289+62dup | |
| XM_024452155.1:c.232+61_232+62dup | XP_024307923.1:n.232+61_232+62dup | |
| NM_031910.4:c.289+61_289+62dup MANE Select | NP_114116.3:n.289+61_289+62dup | |
| NM_182486.2:c.289+61_289+62dup | NP_872292.1:n.289+61_289+62dup |