Linked Data
ClinVar Variation Id:
7856
ClinVar RCV Id:
RCV000008306
dbSNP Id:
rs104894648
gnomAD v4:
17-61456674-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61456674C>T , CM000679.2:g.61456674C>T | GRCh38 |
| NC_000017.10:g.59534035C>T , CM000679.1:g.59534035C>T | GRCh37 |
| NC_000017.9:g.56888817C>T | NCBI36 |
| NG_008080.1:g.5229C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642491.1:c.184C>T | ENSP00000495714.1:p.Gln62Ter | |
| ENST00000644296.1:c.184C>T MANE Select | ENSP00000495986.1:p.Gln62Ter | |
| ENST00000240335.1:c.184C>T | ENSP00000240335.1:p.Gln62Ter | |
| ENST00000393853.8:c.184C>T | ENSP00000377435.3:p.Gln62Ter | |
| ENST00000589003.5:c.-75C>T | ENSP00000467588.1:n.-75C>T | |
| NM_018488.2:c.184C>T | NP_060958.2:p.Gln62Ter | |
| XM_005257835.3:c.184C>T | XP_005257892.2:p.Gln62Ter | |
| XM_005257837.2:c.184C>T | XP_005257894.1:p.Gln62Ter | |
| XM_011525490.1:c.373C>T | XP_011523792.1:p.Gln125Ter | |
| XM_011525491.1:c.373C>T | XP_011523793.1:p.Gln125Ter | |
| XM_011525492.1:c.184C>T | XP_011523794.1:p.Gln62Ter | |
| XM_011525493.1:c.184C>T | XP_011523795.1:p.Gln62Ter | |
| XM_011525494.1:c.184C>T | XP_011523796.1:p.Gln62Ter | |
| XM_011525495.1:c.373C>T | XP_011523797.1:p.Gln125Ter | |
| NM_001321120.2:c.184C>T MANE Select | NP_001308049.1:p.Gln62Ter | |
| NM_018488.3:c.184C>T | NP_060958.2:p.Gln62Ter | |
| XM_011525490.2:c.373C>T | XP_011523792.1:p.Gln125Ter | |
| XM_011525491.2:c.373C>T | XP_011523793.1:p.Gln125Ter | |
| XM_011525495.2:c.373C>T | XP_011523797.1:p.Gln125Ter |