Linked Data
ClinVar Variation Id:
41580
dbSNP Id:
rs3731249
ExAC:
9:21970916 C / T
gnomAD v2:
9-21970916-C-T
gnomAD v3:
9-21970917-C-T
gnomAD v4:
9-21970917-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21970917C>T , CM000671.2:g.21970917C>T | GRCh38 |
| NC_000009.11:g.21970916C>T , CM000671.1:g.21970916C>T | GRCh37 |
| NC_000009.10:g.21960916C>T | NCBI36 |
| NG_007485.1:g.28575G>A , LRG_11:g.28575G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304494.10:c.442G>A MANE Select | ENSP00000307101.5:p.Ala148Thr | |
| ENST00000404796.3:c.348-58516C>T | ENSP00000385916.2:n.348-58516C>T | |
| ENST00000579755.2:c.*86G>A MANE Plus Clinical | ENSP00000462950.1:n.*86G>A | |
| ENST00000304494.9:c.442G>A | ENSP00000307101.5:p.Ala148Thr | |
| ENST00000361570.4:c.484G>A | ENSP00000355153.4:p.Ala162Thr | |
| ENST00000380150.2:n.416G>A | ||
| ENST00000380151.3:c.716G>A | ENSP00000369496.3:n.716G>A | |
| ENST00000404796.2:c.348-58516C>T | ENSP00000385916.2:n.348-58516C>T | |
| ENST00000479692.2:c.289G>A | ENSP00000466887.1:p.Ala97Thr | |
| ENST00000494262.5:c.289G>A | ENSP00000464952.1:p.Ala97Thr | |
| ENST00000497750.1:c.289G>A | ENSP00000468510.1:p.Ala97Thr | |
| ENST00000498124.1:c.442G>A | ENSP00000418915.1:p.Ala148Thr | |
| ENST00000498628.6:c.289G>A | ENSP00000467857.1:p.Ala97Thr | |
| ENST00000530628.2:c.*27+59G>A | ENSP00000432664.2:n.*27+59G>A | |
| ENST00000578845.2:c.289G>A | ENSP00000467390.1:p.Ala97Thr | |
| ENST00000579122.1:c.383+59G>A | ENSP00000464202.1:n.383+59G>A | |
| ENST00000579755.1:c.*86G>A | ENSP00000462950.1:n.*86G>A | |
| NM_000077.4:c.442G>A , LRG_11t1:c.442G>A | NP_000068.1:p.Ala148Thr | |
| NM_001195132.1:c.442G>A | NP_001182061.1:p.Ala148Thr | |
| NM_058195.3:c.*86G>A , LRG_11t2:c.*86G>A | NP_478102.2:n.*86G>A | |
| NM_058197.4:c.716G>A | NP_478104.2:n.716G>A | |
| XM_005251343.1:c.289G>A | XP_005251400.1:p.Ala97Thr | |
| XM_011517675.1:c.442G>A | XP_011515977.1:p.Ala148Thr | |
| XM_011517676.1:c.442G>A | XP_011515978.1:p.Ala148Thr | |
| XM_011517679.1:c.289G>A | XP_011515981.1:p.Ala97Thr | |
| XR_929159.1:n.843G>A | ||
| XR_929161.1:n.632G>A | ||
| XR_929162.1:n.632G>A | ||
| XR_929163.1:n.581G>A | ||
| XR_929164.1:n.364G>A | ||
| NM_001363763.1:c.289G>A | NP_001350692.1:p.Ala97Thr | |
| XM_011517675.2:c.442G>A | XP_011515977.1:p.Ala148Thr | |
| XM_011517676.2:c.442G>A | XP_011515978.1:p.Ala148Thr | |
| XR_929159.2:n.772G>A | ||
| NM_001363763.2:c.289G>A | NP_001350692.1:p.Ala97Thr | |
| NM_000077.5:c.442G>A MANE Select | NP_000068.1:p.Ala148Thr | |
| NM_001195132.2:c.442G>A | NP_001182061.1:p.Ala148Thr | |
| NM_058195.4:c.*86G>A MANE Plus Clinical | NP_478102.2:n.*86G>A | |
| NM_058197.5:c.*365G>A | NP_478104.2:n.*365G>A |