Linked Data
ClinVar Variation Id:
429787
dbSNP Id:
rs1131691593
gnomAD v3:
13-95786040-C-T
gnomAD v4:
13-95786040-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.95786040C>T , CM000675.2:g.95786040C>T | GRCh38 |
| NC_000013.10:g.96438294C>T , CM000675.1:g.96438294C>T | GRCh37 |
| NC_000013.9:g.95236295C>T | NCBI36 |
| NG_041830.1:g.113902C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000602402.6:c.1177C>T MANE Select | ENSP00000473631.1:p.Arg393Ter | |
| ENST00000376795.6:c.1024C>T | ENSP00000365991.6:p.Arg342Ter | |
| ENST00000602402.5:c.1177C>T | ENSP00000473631.1:p.Arg393Ter | |
| NM_006260.4:c.1177C>T | NP_006251.1:p.Arg393Ter | |
| XM_011521104.1:c.1264C>T | XP_011519406.1:p.Arg422Ter | |
| XM_011521105.1:c.1015C>T | XP_011519407.1:p.Arg339Ter | |
| XM_011521104.3:c.1264C>T | XP_011519406.1:p.Arg422Ter | |
| XM_011521105.2:c.1015C>T | XP_011519407.1:p.Arg339Ter | |
| XM_017020674.2:c.928C>T | XP_016876163.1:p.Arg310Ter | |
| XM_017020675.2:c.814C>T | XP_016876164.1:p.Arg272Ter | |
| NM_006260.5:c.1177C>T MANE Select | NP_006251.1:p.Arg393Ter |