Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80280208G>A , CM000672.2:g.80280208G>A | GRCh38 |
| NC_000010.10:g.82039964G>A , CM000672.1:g.82039964G>A | GRCh37 |
| NC_000010.9:g.82029944G>A | NCBI36 |
| NG_008083.1:g.14471C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.514C>T MANE Select | ENSP00000361287.3:p.Leu172Phe | |
| ENST00000372213.7:c.514C>T | ENSP00000361287.3:p.Leu172Phe | |
| ENST00000455001.1:c.325C>T | ENSP00000414961.1:p.Leu109Phe | |
| NM_000429.2:c.514C>T | NP_000420.1:p.Leu172Phe | |
| XM_005269842.3:c.514C>T | XP_005269899.1:p.Leu172Phe | |
| XM_005269843.3:c.391C>T | XP_005269900.1:p.Leu131Phe | |
| NM_000429.3:c.514C>T MANE Select | NP_000420.1:p.Leu172Phe |