Linked Data
dbSNP Id:
rs782792608
ExAC:
6:112390779 T / A
gnomAD v3:
6-112069576-T-A
gnomAD v4:
6-112069576-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112069576T>A , CM000668.2:g.112069576T>A | GRCh38 |
| NC_000006.11:g.112390779T>A , CM000668.1:g.112390779T>A | GRCh37 |
| NC_000006.10:g.112497472T>A | NCBI36 |
| NG_011748.1:g.20502T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368666.7:c.1021T>A MANE Select | ENSP00000357655.4:p.Cys341Ser | |
| ENST00000639360.1:c.922T>A | ENSP00000491774.1:p.Cys308Ser | |
| ENST00000230529.9:c.1021T>A | ENSP00000230529.5:p.Cys341Ser | |
| ENST00000361714.5:c.1021T>A | ENSP00000354734.2:p.Cys341Ser | |
| ENST00000368663.4:c.*327T>A | ENSP00000357652.4:n.*327T>A | |
| ENST00000368664.7:c.*425T>A | ENSP00000357653.3:n.*425T>A | |
| ENST00000368666.6:c.1075T>A | ENSP00000357655.3:p.Cys359Ser | |
| ENST00000409166.5:c.349T>A | ENSP00000386467.1:p.Cys117Ser | |
| ENST00000454589.5:c.*425T>A | ENSP00000395928.1:n.*425T>A | |
| ENST00000604763.5:c.1021T>A | ENSP00000473777.1:p.Cys341Ser | |
| ENST00000613648.1:n.856T>A | ||
| ENST00000620524.3:n.952T>A | ||
| NM_003880.3:c.1021T>A | NP_003871.1:p.Cys341Ser | |
| NM_198239.1:c.1075T>A | NP_937882.1:p.Cys359Ser | |
| NR_125353.1:n.1275T>A | ||
| NR_125354.1:n.1195T>A | ||
| XM_011536220.1:c.1021T>A | XP_011534522.1:p.Cys341Ser | |
| XM_011536221.1:c.*425T>A | XP_011534523.1:n.*425T>A | |
| XM_011536223.1:c.439T>A | XP_011534525.1:p.Cys147Ser | |
| XM_011536223.3:c.439T>A | XP_011534525.1:p.Cys147Ser | |
| XR_001743705.1:n.1623T>A | ||
| NM_003880.4:c.1021T>A | NP_003871.1:p.Cys341Ser | |
| NM_198239.2:c.1021T>A MANE Select | NP_937882.2:p.Cys341Ser | |
| NR_125353.2:n.1339T>A | ||
| NR_125354.3:n.1166T>A |