Linked Data
dbSNP Id:
rs35888550
ExAC:
6:167754922 C / T
gnomAD v2:
6-167754922-C-T
gnomAD v3:
6-167341434-C-T
gnomAD v4:
6-167341434-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.167341434C>T , CM000668.2:g.167341434C>T | GRCh38 |
| NC_000006.11:g.167754922C>T , CM000668.1:g.167754922C>T | GRCh37 |
| NC_000006.10:g.167674912C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239587.10:c.1534C>T MANE Select | ENSP00000239587.5:p.Arg512Trp | |
| ENST00000649884.1:c.1315C>T | ENSP00000497040.1:p.Arg439Trp | |
| ENST00000239587.9:c.1534C>T | ENSP00000239587.5:p.Arg512Trp | |
| ENST00000515138.1:c.1534C>T | ENSP00000424130.1:p.Arg512Trp | |
| NM_031949.4:c.1534C>T | NP_114155.4:p.Arg512Trp | |
| XM_006715572.2:c.1315C>T | XP_006715635.1:p.Arg439Trp | |
| XM_006715572.4:c.1315C>T | XP_006715635.1:p.Arg439Trp | |
| NM_031949.5:c.1534C>T MANE Select | NP_114155.4:p.Arg512Trp |