gnomAD v2:
gnomAD v3:
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40729620C>T , CM000677.2:g.40729620C>T | GRCh38 |
| NC_000015.9:g.41021818C>T , CM000677.1:g.41021818C>T | GRCh37 |
| NC_000015.8:g.38809110C>T | NCBI36 |
| NG_012120.1:g.39460C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267868.8:c.760C>T MANE Select | ENSP00000267868.3:p.Arg254Ter | |
| ENST00000532743.6:c.760C>T | ENSP00000433924.2:p.Arg254Ter | |
| ENST00000645673.2:c.763C>T | ENSP00000493712.2:p.Arg255Ter | |
| ENST00000267868.7:c.760C>T | ENSP00000267868.3:p.Arg254Ter | |
| ENST00000382643.7:c.763C>T | ENSP00000372088.3:p.Arg255Ter | |
| ENST00000423169.6:c.760C>T | ENSP00000406602.2:p.Arg254Ter | |
| ENST00000525066.5:c.*209C>T | ENSP00000431864.1:n.*209C>T | |
| ENST00000531277.2:c.*339C>T | ENSP00000436512.2:n.*339C>T | |
| ENST00000532743.5:c.763C>T | ENSP00000433924.1:p.Arg255Ter | |
| ENST00000557850.5:c.469C>T | ENSP00000454176.1:p.Arg157Ter | |
| NM_001164269.1:c.763C>T | NP_001157741.1:p.Arg255Ter | |
| NM_001164270.1:c.760C>T | NP_001157742.1:p.Arg254Ter | |
| NM_002875.4:c.760C>T | NP_002866.2:p.Arg254Ter | |
| NM_133487.3:c.763C>T | NP_597994.3:p.Arg255Ter | |
| XM_006720626.2:c.760C>T | XP_006720689.1:p.Arg254Ter | |
| XM_011521857.1:c.760C>T | XP_011520159.1:p.Arg254Ter | |
| XM_011521858.1:c.760C>T | XP_011520160.1:p.Arg254Ter | |
| XM_011521859.1:c.760C>T | XP_011520161.1:p.Arg254Ter | |
| XM_011521860.1:c.760C>T | XP_011520162.1:p.Arg254Ter | |
| XM_011521861.1:c.760C>T | XP_011520163.1:p.Arg254Ter | |
| XM_011521862.1:c.388C>T | XP_011520164.1:p.Arg130Ter | |
| XM_006720626.3:c.760C>T | XP_006720689.1:p.Arg254Ter | |
| XM_011521857.2:c.760C>T | XP_011520159.1:p.Arg254Ter | |
| XM_011521858.2:c.760C>T | XP_011520160.1:p.Arg254Ter | |
| XM_011521859.2:c.760C>T | XP_011520161.1:p.Arg254Ter | |
| XM_011521860.2:c.760C>T | XP_011520162.1:p.Arg254Ter | |
| XM_011521861.2:c.760C>T | XP_011520163.1:p.Arg254Ter | |
| XM_011521862.3:c.388C>T | XP_011520164.1:p.Arg130Ter | |
| NM_001164269.2:c.763C>T | NP_001157741.1:p.Arg255Ter | |
| NM_001164270.2:c.760C>T | NP_001157742.1:p.Arg254Ter | |
| NM_002875.5:c.760C>T MANE Select | NP_002866.2:p.Arg254Ter | |
| NM_133487.4:c.763C>T | NP_597994.3:p.Arg255Ter |