Linked Data
dbSNP Id:
rs746298128
ExAC:
10:79759781 T / C
gnomAD v2:
10-79759781-T-C
gnomAD v4:
10-78000023-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78000023T>C , CM000672.2:g.78000023T>C | GRCh38 |
| NC_000010.10:g.79759781T>C , CM000672.1:g.79759781T>C | GRCh37 |
| NC_000010.9:g.79429787T>C | NCBI36 |
| NG_029648.1:g.34518A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698727.1:n.1634A>G | ||
| ENST00000698728.1:n.2153A>G | ||
| ENST00000698729.1:n.3699A>G | ||
| ENST00000698730.1:n.3699A>G | ||
| ENST00000698731.1:c.2433A>G | ENSP00000513898.1:p.Leu811= | |
| ENST00000698732.1:c.*1435A>G | ENSP00000513899.1:n.*1435A>G | |
| ENST00000698733.1:c.*1761A>G | ENSP00000513900.1:n.*1761A>G | |
| ENST00000698734.1:c.2574A>G | ENSP00000513901.1:p.Leu858= | |
| ENST00000698735.1:n.2689A>G | ||
| ENST00000698736.1:n.2689A>G | ||
| ENST00000698737.1:n.2689A>G | ||
| ENST00000698738.1:n.2689A>G | ||
| ENST00000698739.1:n.2689A>G | ||
| ENST00000372371.8:c.2574A>G MANE Select | ENSP00000361446.3:p.Leu858= | |
| ENST00000372371.7:c.2574A>G | ENSP00000361446.3:p.Leu858= | |
| ENST00000472014.5:n.469+4693A>G | ||
| NM_007055.3:c.2574A>G | NP_008986.2:p.Leu858= | |
| NM_007055.4:c.2574A>G MANE Select | NP_008986.2:p.Leu858= |