Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7525146A>T , CM000681.2:g.7525146A>T | GRCh38 |
| NC_000019.9:g.7590032A>T , CM000681.1:g.7590032A>T | GRCh37 |
| NC_000019.8:g.7496032A>T | NCBI36 |
| NG_015806.1:g.7537A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.217A>T MANE Select | ENSP00000264079.5:p.Ile73Phe | |
| ENST00000264079.10:c.217A>T | ENSP00000264079.5:p.Ile73Phe | |
| ENST00000394321.9:n.297A>T | ||
| ENST00000596390.1:n.333A>T | ||
| ENST00000601003.1:c.217A>T | ENSP00000469074.1:p.Ile73Phe | |
| NM_020533.2:c.217A>T | NP_065394.1:p.Ile73Phe | |
| NM_020533.3:c.217A>T MANE Select | NP_065394.1:p.Ile73Phe |