Linked Data
dbSNP Id:
rs1776814495
gnomAD v3:
6-112069563-G-T
gnomAD v4:
6-112069563-G-T
MyVariant Identifiers:
chr6:g.112390766G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112069563G>T , CM000668.2:g.112069563G>T | GRCh38 |
| NC_000006.11:g.112390766G>T , CM000668.1:g.112390766G>T | GRCh37 |
| NC_000006.10:g.112497459G>T | NCBI36 |
| NG_011748.1:g.20489G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368666.7:c.1008G>T MANE Select | ENSP00000357655.4:p.Val336= | |
| ENST00000639360.1:c.909G>T | ENSP00000491774.1:p.Val303= | |
| ENST00000230529.9:c.1008G>T | ENSP00000230529.5:p.Val336= | |
| ENST00000361714.5:c.1008G>T | ENSP00000354734.2:p.Val336= | |
| ENST00000368663.4:c.*314G>T | ENSP00000357652.4:n.*314G>T | |
| ENST00000368664.7:c.*412G>T | ENSP00000357653.3:n.*412G>T | |
| ENST00000368666.6:c.1062G>T | ENSP00000357655.3:p.Val354= | |
| ENST00000409166.5:c.336G>T | ENSP00000386467.1:p.Val112= | |
| ENST00000454589.5:c.*412G>T | ENSP00000395928.1:n.*412G>T | |
| ENST00000604763.5:c.1008G>T | ENSP00000473777.1:p.Val336= | |
| ENST00000613648.1:n.843G>T | ||
| ENST00000620524.3:n.939G>T | ||
| NM_003880.3:c.1008G>T | NP_003871.1:p.Val336= | |
| NM_198239.1:c.1062G>T | NP_937882.1:p.Val354= | |
| NR_125353.1:n.1262G>T | ||
| NR_125354.1:n.1182G>T | ||
| XM_011536220.1:c.1008G>T | XP_011534522.1:p.Val336= | |
| XM_011536221.1:c.*412G>T | XP_011534523.1:n.*412G>T | |
| XM_011536223.1:c.426G>T | XP_011534525.1:p.Val142= | |
| XM_011536223.3:c.426G>T | XP_011534525.1:p.Val142= | |
| XR_001743705.1:n.1610G>T | ||
| NM_003880.4:c.1008G>T | NP_003871.1:p.Val336= | |
| NM_198239.2:c.1008G>T MANE Select | NP_937882.2:p.Val336= | |
| NR_125353.2:n.1326G>T | ||
| NR_125354.3:n.1153G>T |