Linked Data
ClinVar Variation Id:
134002
ClinVar RCV Id:
RCV000120671
dbSNP Id:
rs539507764
ExAC:
6:139222149 C / T
gnomAD v2:
6-139222149-C-T
gnomAD v3:
6-138901012-C-T
gnomAD v4:
6-138901012-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.138901012C>T , CM000668.2:g.138901012C>T | GRCh38 |
| NC_000006.11:g.139222149C>T , CM000668.1:g.139222149C>T | GRCh37 |
| NC_000006.10:g.139263842C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541398.7:c.2479C>T MANE Select | ENSP00000442307.2:p.Arg827Trp | |
| ENST00000367682.6:c.2479C>T | ENSP00000356655.2:p.Arg827Trp | |
| ENST00000423192.5:c.2479C>T | ENSP00000387388.1:p.Arg827Trp | |
| ENST00000541398.5:c.2479C>T | ENSP00000442307.2:p.Arg827Trp | |
| NM_001077706.2:c.2479C>T | NP_001071174.1:p.Arg827Trp | |
| NM_001195037.2:c.2479C>T | NP_001181966.1:p.Arg827Trp | |
| XM_006715472.2:c.2605C>T | XP_006715535.1:p.Arg869Trp | |
| XM_011535795.1:c.2605C>T | XP_011534097.1:p.Arg869Trp | |
| XM_011535796.1:c.2530C>T | XP_011534098.1:p.Arg844Trp | |
| XM_011535797.1:c.2398C>T | XP_011534099.1:p.Arg800Trp | |
| XM_006715472.3:c.2605C>T | XP_006715535.1:p.Arg869Trp | |
| XM_011535795.2:c.2605C>T | XP_011534097.1:p.Arg869Trp | |
| XM_011535797.2:c.2398C>T | XP_011534099.1:p.Arg800Trp | |
| XM_017010828.1:c.2605C>T | XP_016866317.1:p.Arg869Trp | |
| XM_017010829.1:c.2512C>T | XP_016866318.1:p.Arg838Trp | |
| NM_001077706.3:c.2479C>T MANE Select | NP_001071174.1:p.Arg827Trp |