Linked Data
ClinVar Variation Id:
882489
dbSNP Id:
rs149921817
ExAC:
14:24551831 G / A
gnomAD v2:
14-24551831-G-A
gnomAD v3:
14-24082622-G-A
gnomAD v4:
14-24082622-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24082622G>A , CM000676.2:g.24082622G>A | GRCh38 |
| NC_000014.8:g.24551831G>A , CM000676.1:g.24551831G>A | GRCh37 |
| NC_000014.7:g.23621671G>A | NCBI36 |
| NG_011697.1:g.7002C>T | |
| NG_011697.2:g.37393C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561028.6:c.227C>T MANE Select | ENSP00000454062.2:p.Ala76Val | |
| ENST00000396997.1:c.227C>T | ENSP00000380193.1:p.Ala76Val | |
| ENST00000397002.6:c.227C>T | ENSP00000380197.2:p.Ala76Val | |
| ENST00000561028.5:c.227C>T | ENSP00000454062.1:p.Ala76Val | |
| NM_006177.3:c.227C>T | NP_006168.1:p.Ala76Val | |
| XM_005267708.3:c.227C>T | XP_005267765.1:p.Ala76Val | |
| XM_005267709.3:c.227C>T | XP_005267766.1:p.Ala76Val | |
| XM_005267710.3:c.227C>T | XP_005267767.1:p.Ala76Val | |
| XM_011536801.1:c.326C>T | XP_011535103.1:p.Ala109Val | |
| XM_011536802.1:c.227C>T | XP_011535104.1:p.Ala76Val | |
| XM_011536803.1:c.227C>T | XP_011535105.1:p.Ala76Val | |
| XM_011536804.1:c.227C>T | XP_011535106.1:p.Ala76Val | |
| XM_011536805.1:c.227C>T | XP_011535107.1:p.Ala76Val | |
| XM_011536806.1:c.165+161C>T | XP_011535108.1:n.165+161C>T | |
| NM_001354768.1:c.227C>T | NP_001341697.1:p.Ala76Val | |
| NM_001354769.1:c.227C>T | NP_001341698.1:p.Ala76Val | |
| NM_001354770.1:c.66+161C>T | NP_001341699.1:n.66+161C>T | |
| NM_006177.4:c.227C>T | NP_006168.1:p.Ala76Val | |
| XM_011536801.2:c.533C>T | XP_011535103.2:p.Ala178Val | |
| XM_011536804.2:c.227C>T | XP_011535106.1:p.Ala76Val | |
| XM_011536805.2:c.227C>T | XP_011535107.1:p.Ala76Val | |
| XM_011536806.2:c.372+161C>T | XP_011535108.2:n.372+161C>T | |
| NM_001354768.3:c.227C>T MANE Select | NP_001341697.1:p.Ala76Val | |
| NM_001354770.2:c.66+161C>T | NP_001341699.1:n.66+161C>T | |
| NM_006177.5:c.227C>T | NP_006168.1:p.Ala76Val |