Linked Data
ClinVar Variation Id:
13586
dbSNP Id:
rs28933977
ExAC:
6:132206079 C / T
gnomAD v2:
6-132206079-C-T
gnomAD v3:
6-131884939-C-T
gnomAD v4:
6-131884939-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131884939C>T , CM000668.2:g.131884939C>T | GRCh38 |
| NC_000006.11:g.132206079C>T , CM000668.1:g.132206079C>T | GRCh37 |
| NC_000006.10:g.132247772C>T | NCBI36 |
| NG_008206.1:g.81924C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684674.1:n.751C>T | ||
| ENST00000647893.1:c.2320C>T MANE Select | ENSP00000498074.1:p.Arg774Cys | |
| ENST00000360971.6:c.2320C>T | ENSP00000354238.2:p.Arg774Cys | |
| ENST00000513998.5:c.*1157C>T | ENSP00000422424.1:n.*1157C>T | |
| NM_006208.2:c.2320C>T | NP_006199.2:p.Arg774Cys | |
| XM_011535896.1:c.1210C>T | XP_011534198.1:p.Arg404Cys | |
| NM_006208.3:c.2320C>T MANE Select | NP_006199.2:p.Arg774Cys |