Linked Data
ClinVar Variation Id:
2124360
dbSNP Id:
rs774348345
ExAC:
14:24551984 C / T
gnomAD v2:
14-24551984-C-T
gnomAD v3:
14-24082775-C-T
gnomAD v4:
14-24082775-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24082775C>T , CM000676.2:g.24082775C>T | GRCh38 |
| NC_000014.8:g.24551984C>T , CM000676.1:g.24551984C>T | GRCh37 |
| NC_000014.7:g.23621824C>T | NCBI36 |
| NG_011697.1:g.6849G>A | |
| NG_011697.2:g.37240G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561028.6:c.74G>A MANE Select | ENSP00000454062.2:p.Arg25Gln | |
| ENST00000396997.1:c.74G>A | ENSP00000380193.1:p.Arg25Gln | |
| ENST00000397002.6:c.74G>A | ENSP00000380197.2:p.Arg25Gln | |
| ENST00000558280.1:c.74G>A | ENSP00000454180.1:p.Arg25Gln | |
| ENST00000561028.5:c.74G>A | ENSP00000454062.1:p.Arg25Gln | |
| NM_006177.3:c.74G>A | NP_006168.1:p.Arg25Gln | |
| XM_005267708.3:c.74G>A | XP_005267765.1:p.Arg25Gln | |
| XM_005267709.3:c.74G>A | XP_005267766.1:p.Arg25Gln | |
| XM_005267710.3:c.74G>A | XP_005267767.1:p.Arg25Gln | |
| XM_011536801.1:c.173G>A | XP_011535103.1:p.Arg58Gln | |
| XM_011536802.1:c.74G>A | XP_011535104.1:p.Arg25Gln | |
| XM_011536803.1:c.74G>A | XP_011535105.1:p.Arg25Gln | |
| XM_011536804.1:c.74G>A | XP_011535106.1:p.Arg25Gln | |
| XM_011536805.1:c.74G>A | XP_011535107.1:p.Arg25Gln | |
| XM_011536806.1:c.165+8G>A | XP_011535108.1:n.165+8G>A | |
| NM_001354768.1:c.74G>A | NP_001341697.1:p.Arg25Gln | |
| NM_001354769.1:c.74G>A | NP_001341698.1:p.Arg25Gln | |
| NM_001354770.1:c.66+8G>A | NP_001341699.1:n.66+8G>A | |
| NM_006177.4:c.74G>A | NP_006168.1:p.Arg25Gln | |
| XM_011536801.2:c.380G>A | XP_011535103.2:p.Arg127Gln | |
| XM_011536804.2:c.74G>A | XP_011535106.1:p.Arg25Gln | |
| XM_011536805.2:c.74G>A | XP_011535107.1:p.Arg25Gln | |
| XM_011536806.2:c.372+8G>A | XP_011535108.2:n.372+8G>A | |
| NM_001354768.3:c.74G>A MANE Select | NP_001341697.1:p.Arg25Gln | |
| NM_001354770.2:c.66+8G>A | NP_001341699.1:n.66+8G>A | |
| NM_006177.5:c.74G>A | NP_006168.1:p.Arg25Gln |