Linked Data
dbSNP Id:
rs1212153548
gnomAD v2:
10-79769630-T-C
gnomAD v3:
10-78009872-T-C
gnomAD v4:
10-78009872-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78009872T>C , CM000672.2:g.78009872T>C | GRCh38 |
| NC_000010.10:g.79769630T>C , CM000672.1:g.79769630T>C | GRCh37 |
| NC_000010.9:g.79439636T>C | NCBI36 |
| NG_029648.1:g.24669A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698728.1:n.1341A>G | ||
| ENST00000698729.1:n.2887A>G | ||
| ENST00000698730.1:n.2887A>G | ||
| ENST00000698731.1:c.1621A>G | ENSP00000513898.1:p.Ile541Val | |
| ENST00000698732.1:c.*623A>G | ENSP00000513899.1:n.*623A>G | |
| ENST00000698733.1:c.*949A>G | ENSP00000513900.1:n.*949A>G | |
| ENST00000698734.1:c.1762A>G | ENSP00000513901.1:p.Ile588Val | |
| ENST00000698735.1:n.1877A>G | ||
| ENST00000698736.1:n.1877A>G | ||
| ENST00000698737.1:n.1877A>G | ||
| ENST00000698738.1:n.1877A>G | ||
| ENST00000698739.1:n.1877A>G | ||
| ENST00000372371.8:c.1762A>G MANE Select | ENSP00000361446.3:p.Ile588Val | |
| ENST00000372371.7:c.1762A>G | ENSP00000361446.3:p.Ile588Val | |
| ENST00000473588.2:c.564A>G | ||
| NM_007055.3:c.1762A>G | NP_008986.2:p.Ile588Val | |
| NM_007055.4:c.1762A>G MANE Select | NP_008986.2:p.Ile588Val |