Linked Data
ClinVar Variation Id:
1426949
ClinVar RCV Id:
RCV001933509
dbSNP Id:
rs765131883
ExAC:
14:24551861 C / A
gnomAD v2:
14-24551861-C-A
gnomAD v3:
14-24082652-C-A
gnomAD v4:
14-24082652-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24082652C>A , CM000676.2:g.24082652C>A | GRCh38 |
| NC_000014.8:g.24551861C>A , CM000676.1:g.24551861C>A | GRCh37 |
| NC_000014.7:g.23621701C>A | NCBI36 |
| NG_011697.1:g.6972G>T | |
| NG_011697.2:g.37363G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561028.6:c.197G>T MANE Select | ENSP00000454062.2:p.Arg66Leu | |
| ENST00000396997.1:c.197G>T | ENSP00000380193.1:p.Arg66Leu | |
| ENST00000397002.6:c.197G>T | ENSP00000380197.2:p.Arg66Leu | |
| ENST00000561028.5:c.197G>T | ENSP00000454062.1:p.Arg66Leu | |
| NM_006177.3:c.197G>T | NP_006168.1:p.Arg66Leu | |
| XM_005267708.3:c.197G>T | XP_005267765.1:p.Arg66Leu | |
| XM_005267709.3:c.197G>T | XP_005267766.1:p.Arg66Leu | |
| XM_005267710.3:c.197G>T | XP_005267767.1:p.Arg66Leu | |
| XM_011536801.1:c.296G>T | XP_011535103.1:p.Arg99Leu | |
| XM_011536802.1:c.197G>T | XP_011535104.1:p.Arg66Leu | |
| XM_011536803.1:c.197G>T | XP_011535105.1:p.Arg66Leu | |
| XM_011536804.1:c.197G>T | XP_011535106.1:p.Arg66Leu | |
| XM_011536805.1:c.197G>T | XP_011535107.1:p.Arg66Leu | |
| XM_011536806.1:c.165+131G>T | XP_011535108.1:n.165+131G>T | |
| NM_001354768.1:c.197G>T | NP_001341697.1:p.Arg66Leu | |
| NM_001354769.1:c.197G>T | NP_001341698.1:p.Arg66Leu | |
| NM_001354770.1:c.66+131G>T | NP_001341699.1:n.66+131G>T | |
| NM_006177.4:c.197G>T | NP_006168.1:p.Arg66Leu | |
| XM_011536801.2:c.503G>T | XP_011535103.2:p.Arg168Leu | |
| XM_011536804.2:c.197G>T | XP_011535106.1:p.Arg66Leu | |
| XM_011536805.2:c.197G>T | XP_011535107.1:p.Arg66Leu | |
| XM_011536806.2:c.372+131G>T | XP_011535108.2:n.372+131G>T | |
| NM_001354768.3:c.197G>T MANE Select | NP_001341697.1:p.Arg66Leu | |
| NM_001354770.2:c.66+131G>T | NP_001341699.1:n.66+131G>T | |
| NM_006177.5:c.197G>T | NP_006168.1:p.Arg66Leu |