Linked Data
ClinVar Variation Id:
305753
dbSNP Id:
rs142499054
ExAC:
11:67379035 C / T
gnomAD v2:
11-67379035-C-T
gnomAD v3:
11-67611564-C-T
gnomAD v4:
11-67611564-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67611564C>T , CM000673.2:g.67611564C>T | GRCh38 |
| NC_000011.9:g.67379035C>T , CM000673.1:g.67379035C>T | GRCh37 |
| NC_000011.8:g.67135611C>T | NCBI36 |
| NG_013353.1:g.9713C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.1075C>T MANE Select | ENSP00000322450.6:p.Arg359Cys | |
| ENST00000647561.1:c.1075C>T | ENSP00000497587.1:p.Arg359Cys | |
| ENST00000322776.10:c.1075C>T | ENSP00000322450.6:p.Arg359Cys | |
| ENST00000415352.6:c.1054C>T | ENSP00000395368.2:p.Arg352Cys | |
| ENST00000526169.1:n.698C>T | ||
| ENST00000526770.5:n.1358C>T | ||
| ENST00000527355.5:c.364C>T | ENSP00000432637.1:p.Arg122Cys | |
| ENST00000527923.1:n.417C>T | ||
| ENST00000529927.5:c.1048C>T | ENSP00000436766.1:p.Arg350Cys | |
| ENST00000531250.1:n.12C>T | ||
| ENST00000532303.5:c.772C>T | ENSP00000432015.1:p.Arg258Cys | |
| ENST00000533919.5:c.479C>T | ENSP00000435199.1:n.479C>T | |
| NM_001166102.1:c.1048C>T | NP_001159574.1:p.Arg350Cys | |
| NM_007103.3:c.1075C>T | NP_009034.2:p.Arg359Cys | |
| NM_001166102.2:c.1048C>T | NP_001159574.1:p.Arg350Cys | |
| NM_007103.4:c.1075C>T MANE Select | NP_009034.2:p.Arg359Cys |