Linked Data
ClinVar Variation Id:
424426
ClinVar RCV Id:
RCV000487103
dbSNP Id:
rs1064796962
gnomAD v4:
15-75396427-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.75396427G>A , CM000677.2:g.75396427G>A | GRCh38 |
| NC_000015.9:g.75688768G>A , CM000677.1:g.75688768G>A | GRCh37 |
| NC_000015.8:g.73475821G>A | NCBI36 |
| NG_052855.1:g.64357C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000564778.6:c.1924C>T | ENSP00000455204.2:p.Arg642Cys | |
| ENST00000565264.2:c.1924C>T | ENSP00000454296.2:p.Arg642Cys | |
| ENST00000704302.1:c.1246C>T | ENSP00000515826.1:p.Arg416Cys | |
| ENST00000704304.1:c.*1878C>T | ENSP00000515828.1:n.*1878C>T | |
| ENST00000704305.1:c.2034C>T | ENSP00000515829.1:n.2034C>T | |
| ENST00000704310.1:c.1924C>T | ENSP00000515832.1:p.Arg642Cys | |
| ENST00000704311.1:c.821C>T | ||
| ENST00000704312.1:c.1924C>T | ENSP00000515834.1:p.Arg642Cys | |
| ENST00000394947.8:c.1924C>T MANE Select | ENSP00000378402.3:p.Arg642Cys | |
| ENST00000360439.8:c.1924C>T | ENSP00000353622.4:p.Arg642Cys | |
| ENST00000394947.7:c.1924C>T | ENSP00000378402.3:p.Arg642Cys | |
| ENST00000394949.8:c.1924C>T | ENSP00000378403.4:p.Arg642Cys | |
| NM_001145357.1:c.1924C>T | NP_001138829.1:p.Arg642Cys | |
| NM_001145358.1:c.1924C>T | NP_001138830.1:p.Arg642Cys | |
| NM_015477.2:c.1924C>T | NP_056292.1:p.Arg642Cys | |
| XM_006720465.2:c.1924C>T | XP_006720528.1:p.Arg642Cys | |
| XM_006720466.2:c.1924C>T | XP_006720529.1:p.Arg642Cys | |
| XM_006720467.2:c.1924C>T | XP_006720530.1:p.Arg642Cys | |
| XM_006720465.3:c.1924C>T | XP_006720528.1:p.Arg642Cys | |
| XM_006720466.3:c.1924C>T | XP_006720529.1:p.Arg642Cys | |
| XM_006720467.3:c.1924C>T | XP_006720530.1:p.Arg642Cys | |
| XM_024449896.1:c.1924C>T | XP_024305664.1:p.Arg642Cys | |
| NM_001145357.2:c.1924C>T | NP_001138829.1:p.Arg642Cys | |
| NM_001145358.2:c.1924C>T MANE Select | NP_001138830.1:p.Arg642Cys | |
| NM_015477.3:c.1924C>T | NP_056292.1:p.Arg642Cys |