Linked Data
dbSNP Id:
rs782395830
ExAC:
6:112390767 T / C
gnomAD v2:
6-112390767-T-C
gnomAD v4:
6-112069564-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112069564T>C , CM000668.2:g.112069564T>C | GRCh38 |
| NC_000006.11:g.112390767T>C , CM000668.1:g.112390767T>C | GRCh37 |
| NC_000006.10:g.112497460T>C | NCBI36 |
| NG_011748.1:g.20490T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368666.7:c.1009T>C MANE Select | ENSP00000357655.4:p.Cys337Arg | |
| ENST00000639360.1:c.910T>C | ENSP00000491774.1:p.Cys304Arg | |
| ENST00000230529.9:c.1009T>C | ENSP00000230529.5:p.Cys337Arg | |
| ENST00000361714.5:c.1009T>C | ENSP00000354734.2:p.Cys337Arg | |
| ENST00000368663.4:c.*315T>C | ENSP00000357652.4:n.*315T>C | |
| ENST00000368664.7:c.*413T>C | ENSP00000357653.3:n.*413T>C | |
| ENST00000368666.6:c.1063T>C | ENSP00000357655.3:p.Cys355Arg | |
| ENST00000409166.5:c.337T>C | ENSP00000386467.1:p.Cys113Arg | |
| ENST00000454589.5:c.*413T>C | ENSP00000395928.1:n.*413T>C | |
| ENST00000604763.5:c.1009T>C | ENSP00000473777.1:p.Cys337Arg | |
| ENST00000613648.1:n.844T>C | ||
| ENST00000620524.3:n.940T>C | ||
| NM_003880.3:c.1009T>C | NP_003871.1:p.Cys337Arg | |
| NM_198239.1:c.1063T>C | NP_937882.1:p.Cys355Arg | |
| NR_125353.1:n.1263T>C | ||
| NR_125354.1:n.1183T>C | ||
| XM_011536220.1:c.1009T>C | XP_011534522.1:p.Cys337Arg | |
| XM_011536221.1:c.*413T>C | XP_011534523.1:n.*413T>C | |
| XM_011536223.1:c.427T>C | XP_011534525.1:p.Cys143Arg | |
| XM_011536223.3:c.427T>C | XP_011534525.1:p.Cys143Arg | |
| XR_001743705.1:n.1611T>C | ||
| NM_003880.4:c.1009T>C | NP_003871.1:p.Cys337Arg | |
| NM_198239.2:c.1009T>C MANE Select | NP_937882.2:p.Cys337Arg | |
| NR_125353.2:n.1327T>C | ||
| NR_125354.3:n.1154T>C |