Linked Data
ClinVar Variation Id:
2819669
ClinVar RCV Id:
RCV003706397
dbSNP Id:
rs757518980
ExAC:
14:24550697 G / T
gnomAD v2:
14-24550697-G-T
gnomAD v4:
14-24081488-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24081488G>T , CM000676.2:g.24081488G>T | GRCh38 |
| NC_000014.8:g.24550697G>T , CM000676.1:g.24550697G>T | GRCh37 |
| NC_000014.7:g.23620537G>T | NCBI36 |
| NG_011697.1:g.8136C>A | |
| NG_011697.2:g.38527C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561028.6:c.462C>A MANE Select | ENSP00000454062.2:p.Arg154= | |
| ENST00000396995.1:c.45C>A | ENSP00000380191.1:p.Arg15= | |
| ENST00000396997.1:c.462C>A | ENSP00000380193.1:p.Arg154= | |
| ENST00000397002.6:c.462C>A | ENSP00000380197.2:p.Arg154= | |
| ENST00000560550.1:c.45C>A | ENSP00000452966.1:p.Arg15= | |
| ENST00000561028.5:c.462C>A | ENSP00000454062.1:p.Arg154= | |
| NM_006177.3:c.462C>A | NP_006168.1:p.Arg154= | |
| XM_005267708.3:c.462C>A | XP_005267765.1:p.Arg154= | |
| XM_005267709.3:c.462C>A | XP_005267766.1:p.Arg154= | |
| XM_005267710.3:c.462C>A | XP_005267767.1:p.Arg154= | |
| XM_011536801.1:c.561C>A | XP_011535103.1:p.Arg187= | |
| XM_011536802.1:c.462C>A | XP_011535104.1:p.Arg154= | |
| XM_011536803.1:c.462C>A | XP_011535105.1:p.Arg154= | |
| XM_011536804.1:c.462C>A | XP_011535106.1:p.Arg154= | |
| XM_011536805.1:c.462C>A | XP_011535107.1:p.Arg154= | |
| XM_011536806.1:c.246C>A | XP_011535108.1:p.Arg82= | |
| NM_001354768.1:c.462C>A | NP_001341697.1:p.Arg154= | |
| NM_001354769.1:c.462C>A | NP_001341698.1:p.Arg154= | |
| NM_001354770.1:c.147C>A | NP_001341699.1:p.Arg49= | |
| NM_006177.4:c.462C>A | NP_006168.1:p.Arg154= | |
| XM_011536801.2:c.768C>A | XP_011535103.2:p.Arg256= | |
| XM_011536804.2:c.462C>A | XP_011535106.1:p.Arg154= | |
| XM_011536805.2:c.462C>A | XP_011535107.1:p.Arg154= | |
| XM_011536806.2:c.453C>A | XP_011535108.2:p.Arg151= | |
| NM_001354768.3:c.462C>A MANE Select | NP_001341697.1:p.Arg154= | |
| NM_001354770.2:c.147C>A | NP_001341699.1:p.Arg49= | |
| NM_006177.5:c.462C>A | NP_006168.1:p.Arg154= |