Linked Data
ClinVar Variation Id:
483327
dbSNP Id:
rs749588877
ExAC:
9:21970950 G / GC
gnomAD v2:
9-21970950-G-GC
gnomAD v3:
9-21970951-G-GC
gnomAD v4:
9-21970951-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21970957dup , CM000671.2:g.21970957dup | GRCh38 |
| NC_000009.11:g.21970956dup , CM000671.1:g.21970956dup | GRCh37 |
| NC_000009.10:g.21960956dup | NCBI36 |
| NG_007485.1:g.28540dup , LRG_11:g.28540dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304494.10:c.407dup MANE Select | ENSP00000307101.5:p.Thr137HisfsTer5 | |
| ENST00000404796.3:c.348-58476dup | ENSP00000385916.2:n.348-58476dup | |
| ENST00000579755.2:c.*51dup MANE Plus Clinical | ENSP00000462950.1:n.*51dup | |
| ENST00000304494.9:c.407dup | ENSP00000307101.5:p.Thr137HisfsTer5 | |
| ENST00000361570.4:c.449dup | ENSP00000355153.4:p.Thr151HisfsTer5 | |
| ENST00000380150.2:n.381dup | ||
| ENST00000380151.3:c.681dup | ENSP00000369496.3:n.681dup | |
| ENST00000404796.2:c.348-58476dup | ENSP00000385916.2:n.348-58476dup | |
| ENST00000479692.2:c.254dup | ENSP00000466887.1:p.Thr86HisfsTer5 | |
| ENST00000494262.5:c.254dup | ENSP00000464952.1:p.Thr86HisfsTer5 | |
| ENST00000497750.1:c.254dup | ENSP00000468510.1:p.Thr86HisfsTer5 | |
| ENST00000498124.1:c.407dup | ENSP00000418915.1:p.Thr137HisfsTer5 | |
| ENST00000498628.6:c.254dup | ENSP00000467857.1:p.Thr86HisfsTer5 | |
| ENST00000530628.2:c.*27+24dup | ENSP00000432664.2:n.*27+24dup | |
| ENST00000578845.2:c.254dup | ENSP00000467390.1:p.Thr86HisfsTer5 | |
| ENST00000579122.1:c.383+24dup | ENSP00000464202.1:n.383+24dup | |
| ENST00000579755.1:c.*51dup | ENSP00000462950.1:n.*51dup | |
| NM_000077.4:c.407dup , LRG_11t1:c.407dup | NP_000068.1:p.Thr137HisfsTer5 | |
| NM_001195132.1:c.407dup | NP_001182061.1:p.Thr137HisfsTer5 | |
| NM_058195.3:c.*51dup , LRG_11t2:c.*51dup | NP_478102.2:n.*51dup | |
| NM_058197.4:c.681dup | NP_478104.2:n.681dup | |
| XM_005251343.1:c.254dup | XP_005251400.1:p.Thr86HisfsTer5 | |
| XM_011517675.1:c.407dup | XP_011515977.1:p.Thr137HisfsTer5 | |
| XM_011517676.1:c.407dup | XP_011515978.1:p.Thr137HisfsTer5 | |
| XM_011517679.1:c.254dup | XP_011515981.1:p.Thr86HisfsTer5 | |
| XR_929159.1:n.808dup | ||
| XR_929161.1:n.597dup | ||
| XR_929162.1:n.597dup | ||
| XR_929163.1:n.546dup | ||
| XR_929164.1:n.329dup | ||
| NM_001363763.1:c.254dup | NP_001350692.1:p.Thr86HisfsTer5 | |
| XM_011517675.2:c.407dup | XP_011515977.1:p.Thr137HisfsTer5 | |
| XM_011517676.2:c.407dup | XP_011515978.1:p.Thr137HisfsTer5 | |
| XR_929159.2:n.737dup | ||
| NM_001363763.2:c.254dup | NP_001350692.1:p.Thr86HisfsTer5 | |
| NM_000077.5:c.407dup MANE Select | NP_000068.1:p.Thr137HisfsTer5 | |
| NM_001195132.2:c.407dup | NP_001182061.1:p.Thr137HisfsTer5 | |
| NM_058195.4:c.*51dup MANE Plus Clinical | NP_478102.2:n.*51dup | |
| NM_058197.5:c.*330dup | NP_478104.2:n.*330dup |