Linked Data
ClinVar Variation Id:
861204
ClinVar RCV Id:
RCV001067673
dbSNP Id:
rs2036283625
gnomAD v4:
14-24081372-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24081372C>T , CM000676.2:g.24081372C>T | GRCh38 |
| NC_000014.8:g.24550581C>T , CM000676.1:g.24550581C>T | GRCh37 |
| NC_000014.7:g.23620421C>T | NCBI36 |
| NG_011697.1:g.8252G>A | |
| NG_011697.2:g.38643G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561028.6:c.578G>A MANE Select | ENSP00000454062.2:p.Arg193His | |
| ENST00000396995.1:c.161G>A | ENSP00000380191.1:p.Arg54His | |
| ENST00000396997.1:c.578G>A | ENSP00000380193.1:p.Arg193His | |
| ENST00000397002.6:c.578G>A | ENSP00000380197.2:p.Arg193His | |
| ENST00000560550.1:c.161G>A | ENSP00000452966.1:p.Arg54His | |
| ENST00000561028.5:c.578G>A | ENSP00000454062.1:p.Arg193His | |
| NM_006177.3:c.578G>A | NP_006168.1:p.Arg193His | |
| XM_005267708.3:c.578G>A | XP_005267765.1:p.Arg193His | |
| XM_005267709.3:c.578G>A | XP_005267766.1:p.Arg193His | |
| XM_005267710.3:c.578G>A | XP_005267767.1:p.Arg193His | |
| XM_011536801.1:c.677G>A | XP_011535103.1:p.Arg226His | |
| XM_011536802.1:c.578G>A | XP_011535104.1:p.Arg193His | |
| XM_011536803.1:c.578G>A | XP_011535105.1:p.Arg193His | |
| XM_011536804.1:c.578G>A | XP_011535106.1:p.Arg193His | |
| XM_011536805.1:c.578G>A | XP_011535107.1:p.Arg193His | |
| XM_011536806.1:c.362G>A | XP_011535108.1:p.Arg121His | |
| NM_001354768.1:c.578G>A | NP_001341697.1:p.Arg193His | |
| NM_001354769.1:c.578G>A | NP_001341698.1:p.Arg193His | |
| NM_001354770.1:c.263G>A | NP_001341699.1:p.Arg88His | |
| NM_006177.4:c.578G>A | NP_006168.1:p.Arg193His | |
| XM_011536801.2:c.884G>A | XP_011535103.2:p.Arg295His | |
| XM_011536804.2:c.578G>A | XP_011535106.1:p.Arg193His | |
| XM_011536805.2:c.578G>A | XP_011535107.1:p.Arg193His | |
| XM_011536806.2:c.569G>A | XP_011535108.2:p.Arg190His | |
| NM_001354768.3:c.578G>A MANE Select | NP_001341697.1:p.Arg193His | |
| NM_001354770.2:c.263G>A | NP_001341699.1:p.Arg88His | |
| NM_006177.5:c.578G>A | NP_006168.1:p.Arg193His |