Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7525062C>T , CM000681.2:g.7525062C>T | GRCh38 |
| NC_000019.9:g.7589948C>T , CM000681.1:g.7589948C>T | GRCh37 |
| NC_000019.8:g.7495948C>T | NCBI36 |
| NG_015806.1:g.7453C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.133C>T MANE Select | ENSP00000264079.5:p.Leu45Phe | |
| ENST00000264079.10:c.133C>T | ENSP00000264079.5:p.Leu45Phe | |
| ENST00000394321.9:n.213C>T | ||
| ENST00000596390.1:n.249C>T | ||
| ENST00000601003.1:c.133C>T | ENSP00000469074.1:p.Leu45Phe | |
| NM_020533.2:c.133C>T | NP_065394.1:p.Leu45Phe | |
| NM_020533.3:c.133C>T MANE Select | NP_065394.1:p.Leu45Phe |