Linked Data
ClinVar Variation Id:
3126
ClinVar RCV Id:
RCV000003274
RCV000046011
RCV000057613
RCV000182211
RCV000618290
RCV000853434
RCV001841224
dbSNP Id:
rs120074185
ExAC:
11:2797262 C / T
gnomAD v2:
11-2797262-C-T
gnomAD v4:
11-2776032-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2776032C>T , CM000673.2:g.2776032C>T | GRCh38 |
| NC_000011.9:g.2797262C>T , CM000673.1:g.2797262C>T | GRCh37 |
| NC_000011.8:g.2753838C>T | NCBI36 |
| NG_008935.1:g.336042C>T , LRG_287:g.336042C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1306C>T | ENSP00000434560.2:p.Arg436Cys | |
| ENST00000646564.2:c.1123C>T | ENSP00000495806.2:p.Arg375Cys | |
| ENST00000155840.12:c.1663C>T MANE Select | ENSP00000155840.2:p.Arg555Cys | |
| ENST00000335475.6:c.1282C>T | ENSP00000334497.5:p.Arg428Cys | |
| ENST00000646564.1:c.769C>T | ENSP00000495806.1:p.Arg257Cys | |
| ENST00000155840.9:c.1663C>T | ENSP00000155840.2:p.Arg555Cys | |
| ENST00000335475.5:c.1282C>T | ENSP00000334497.5:p.Arg428Cys | |
| NM_000218.2:c.1663C>T , LRG_287t1:c.1663C>T | NP_000209.2:p.Arg555Cys | |
| NM_181798.1:c.1282C>T , LRG_287t2:c.1282C>T | NP_861463.1:p.Arg428Cys | |
| NM_000218.3:c.1663C>T MANE Select | NP_000209.2:p.Arg555Cys |