Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173535G>T , CM000678.2:g.173535G>T | GRCh38 |
| NC_000016.9:g.223534G>T , CM000678.1:g.223534G>T | GRCh37 |
| NC_000016.8:g.163534G>T | NCBI36 |
| NG_000006.1:g.34398G>T | |
| NG_059186.1:g.1885G>T | |
| NG_059271.1:g.5689G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.364G>T MANE Select | ENSP00000251595.6:p.Val122Leu | |
| ENST00000251595.10:c.364G>T | ENSP00000251595.6:p.Val122Leu | |
| ENST00000397806.1:c.268G>T | ENSP00000380908.1:p.Val90Leu | |
| ENST00000482565.1:n.500G>T | ||
| NM_000517.4:c.364G>T | NP_000508.1:p.Val122Leu | |
| NM_000517.6:c.364G>T MANE Select | NP_000508.1:p.Val122Leu |