Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985981G>C , CM000678.2:g.1985981G>C | GRCh38 |
| NC_000016.9:g.2035982G>C , CM000678.1:g.2035982G>C | GRCh37 |
| NC_000016.8:g.1975983G>C | NCBI36 |
| NG_016288.1:g.6833G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.346G>C | ENSP00000455885.1:p.Val116Leu | |
| ENST00000248114.7:c.571G>C MANE Select | ENSP00000248114.6:p.Val191Leu | |
| ENST00000248114.6:c.571G>C | ENSP00000248114.6:p.Val191Leu | |
| ENST00000565658.1:n.728G>C | ||
| ENST00000567719.1:c.346G>C | ENSP00000455885.1:p.Val116Leu | |
| ENST00000569451.1:c.*44G>C | ENSP00000456432.1:n.*44G>C | |
| NM_005262.2:c.571G>C | NP_005253.3:p.Val191Leu | |
| NM_005262.3:c.571G>C MANE Select | NP_005253.3:p.Val191Leu |