Linked Data
dbSNP Id:
rs778841169
ExAC:
15:78894467 A / G
gnomAD v2:
15-78894467-A-G
gnomAD v4:
15-78602125-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78602125A>G , CM000677.2:g.78602125A>G | GRCh38 |
| NC_000015.9:g.78894467A>G , CM000677.1:g.78894467A>G | GRCh37 |
| NC_000015.8:g.76681522A>G | NCBI36 |
| NG_016143.1:g.24171T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326828.6:c.517T>C MANE Select | ENSP00000315602.5:p.Cys173Arg | |
| ENST00000326828.5:c.517T>C | ENSP00000315602.5:p.Cys173Arg | |
| ENST00000348639.7:c.517T>C | ENSP00000267951.4:p.Cys173Arg | |
| ENST00000558903.1:n.224T>C | ||
| ENST00000559658.5:c.517T>C | ENSP00000452896.1:p.Cys173Arg | |
| NM_000743.4:c.517T>C | NP_000734.2:p.Cys173Arg | |
| NM_001166694.1:c.517T>C | NP_001160166.1:p.Cys173Arg | |
| NR_046313.1:n.1018T>C | ||
| XM_006720382.1:c.316T>C | XP_006720445.1:p.Cys106Arg | |
| XM_011521173.1:c.436T>C | XP_011519475.1:p.Cys146Arg | |
| XM_006720382.3:c.316T>C | XP_006720445.1:p.Cys106Arg | |
| NM_000743.5:c.517T>C MANE Select | NP_000734.2:p.Cys173Arg | |
| NM_001166694.2:c.517T>C | NP_001160166.1:p.Cys173Arg | |
| NR_046313.2:n.719T>C |