Identifiers and link-outs to other resources
dbSNP Id:
rs1059426
ExAC:
6:29910583 C / T
gnomAD:
6:29910583 C / T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29942806C>T , CM000668.2:g.29942806C>T | GRCh38 |
| NC_000006.11:g.29910583C>T , CM000668.1:g.29910583C>T | GRCh37 |
| NC_000006.10:g.30018562C>T | NCBI36 |
| NG_029217.2:g.5341C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_002116.7:c.123C>T VV | NP_002107.3:p.Arg41= | |
| NM_002116.8:c.123C>T VV MANE Preferred | NP_002107.3:p.Arg41= | |
| ENST00000376802.2:c.123C>T | ENSP00000365998.2:p.Arg41= | |
| ENST00000376806.9:c.123C>T | ENSP00000366002.5:p.Arg41= | |
| ENST00000376809.9:c.123C>T | ENSP00000366005.5:p.Arg41= | |
| ENST00000396634.5:c.123C>T | ENSP00000379873.1:p.Arg41= | |
| ENST00000429656.1:n.262G>A | ||
| ENST00000461903.1:n.123C>T | ||
| ENST00000479320.5:n.123C>T | ||
| ENST00000495183.5:n.125C>T | ||
| ENST00000496081.5:n.129C>T |