Linked Data
ClinVar Variation Id:
2142212
ClinVar RCV Id:
RCV003076259
dbSNP Id:
rs897741207
gnomAD v2:
6-32800487-G-A
gnomAD v3:
6-32832710-G-A
gnomAD v4:
6-32832710-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32832710G>A , CM000668.2:g.32832710G>A | GRCh38 |
| NC_000006.11:g.32800487G>A , CM000668.1:g.32800487G>A | GRCh37 |
| NC_000006.10:g.32908465G>A | NCBI36 |
| NG_009793.3:g.11061C>T | |
| NG_009793.4:g.11061C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485701.2:n.3463C>T | ||
| ENST00000698440.1:c.1060C>T | ENSP00000513722.1:p.Arg354Cys | |
| ENST00000698441.1:c.1060C>T | ENSP00000513723.1:p.Arg354Cys | |
| ENST00000698448.1:c.1060C>T | ENSP00000513733.1:p.Arg354Cys | |
| ENST00000698449.1:c.1060C>T | ENSP00000513734.1:p.Arg354Cys | |
| ENST00000705716.1:c.1060C>T | ENSP00000516164.1:p.Arg354Cys | |
| ENST00000374897.4:c.1060C>T MANE Select | ENSP00000364032.3:p.Arg354Cys | |
| ENST00000652259.1:c.1060C>T | ENSP00000498827.1:p.Arg354Cys | |
| ENST00000374897.2:c.1060C>T | ENSP00000364032.2:p.Arg354Cys | |
| ENST00000374899.8:c.1060C>T | ENSP00000364034.4:p.Arg354Cys | |
| ENST00000452392.2:c.1060C>T | ENSP00000391806.2:p.Arg354Cys | |
| ENST00000485701.1:n.24C>T | ||
| ENST00000620123.4:c.1060C>T | ENSP00000481712.1:p.Arg354Cys | |
| NM_001290043.1:c.1060C>T | NP_001276972.1:p.Arg354Cys | |
| NM_018833.2:c.1060C>T | NP_061313.2:p.Arg354Cys | |
| NM_001290043.2:c.1060C>T MANE Select | NP_001276972.1:p.Arg354Cys | |
| NM_018833.3:c.1060C>T | NP_061313.2:p.Arg354Cys |