Linked Data
ClinVar Variation Id:
134139
dbSNP Id:
rs587778284
ExAC:
16:14042043 C / T
gnomAD v2:
16-14042043-C-T
gnomAD v3:
16-13948186-C-T
gnomAD v4:
16-13948186-C-T
COSMIC:
COSM5190035
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948186C>T , CM000678.2:g.13948186C>T | GRCh38 |
| NC_000016.9:g.14042043C>T , CM000678.1:g.14042043C>T | GRCh37 |
| NC_000016.8:g.13949544C>T | NCBI36 |
| NG_011442.1:g.33030C>T , LRG_463:g.33030C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2728C>T | ENSP00000507912.1:p.Arg910Cys | |
| ENST00000683962.1:c.*2284C>T | ENSP00000506854.1:n.*2284C>T | |
| ENST00000311895.8:c.2590C>T MANE Select | ENSP00000310520.7:p.Arg864Cys | |
| ENST00000311895.7:c.2590C>T | ENSP00000310520.7:p.Arg864Cys | |
| ENST00000389138.7:n.1867C>T | ||
| NM_005236.2:c.2590C>T , LRG_463t1:c.2590C>T | NP_005227.1:p.Arg864Cys | |
| XM_011522424.1:c.2728C>T | XP_011520726.1:p.Arg910Cys | |
| XM_011522425.1:c.2047C>T | XP_011520727.1:p.Arg683Cys | |
| XM_011522426.1:c.1801C>T | XP_011520728.1:p.Arg601Cys | |
| XM_011522427.1:c.1240C>T | XP_011520729.1:p.Arg414Cys | |
| XR_932805.1:n.2749C>T | ||
| XM_011522424.3:c.2728C>T | XP_011520726.1:p.Arg910Cys | |
| XM_017023043.2:c.1801C>T | XP_016878532.1:p.Arg601Cys | |
| NM_005236.3:c.2590C>T MANE Select | NP_005227.1:p.Arg864Cys |