Linked Data
dbSNP Id:
rs56214655
ExAC:
10:79769668 T / C
gnomAD v2:
10-79769668-T-C
gnomAD v4:
10-78009910-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78009910T>C , CM000672.2:g.78009910T>C | GRCh38 |
| NC_000010.10:g.79769668T>C , CM000672.1:g.79769668T>C | GRCh37 |
| NC_000010.9:g.79439674T>C | NCBI36 |
| NG_029648.1:g.24631A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698728.1:n.1303A>G | ||
| ENST00000698729.1:n.2849A>G | ||
| ENST00000698730.1:n.2849A>G | ||
| ENST00000698731.1:c.1583A>G | ENSP00000513898.1:p.Lys528Arg | |
| ENST00000698732.1:c.*585A>G | ENSP00000513899.1:n.*585A>G | |
| ENST00000698733.1:c.*911A>G | ENSP00000513900.1:n.*911A>G | |
| ENST00000698734.1:c.1724A>G | ENSP00000513901.1:p.Lys575Arg | |
| ENST00000698735.1:n.1839A>G | ||
| ENST00000698736.1:n.1839A>G | ||
| ENST00000698737.1:n.1839A>G | ||
| ENST00000698738.1:n.1839A>G | ||
| ENST00000698739.1:n.1839A>G | ||
| ENST00000372371.8:c.1724A>G MANE Select | ENSP00000361446.3:p.Lys575Arg | |
| ENST00000372371.7:c.1724A>G | ENSP00000361446.3:p.Lys575Arg | |
| ENST00000473588.2:c.526A>G | ||
| NM_007055.3:c.1724A>G | NP_008986.2:p.Lys575Arg | |
| NM_007055.4:c.1724A>G MANE Select | NP_008986.2:p.Lys575Arg |