Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7526442A>T , CM000681.2:g.7526442A>T | GRCh38 |
| NC_000019.9:g.7591328A>T , CM000681.1:g.7591328A>T | GRCh37 |
| NC_000019.8:g.7497328A>T | NCBI36 |
| NG_015806.1:g.8833A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.241A>T MANE Select | ENSP00000264079.5:p.Ile81Phe | |
| ENST00000264079.10:c.241A>T | ENSP00000264079.5:p.Ile81Phe | |
| ENST00000394321.9:n.321A>T | ||
| ENST00000596008.1:n.203A>T | ||
| ENST00000598406.1:n.62A>T | ||
| ENST00000601003.1:c.241A>T | ENSP00000469074.1:p.Ile81Phe | |
| NM_020533.2:c.241A>T | NP_065394.1:p.Ile81Phe | |
| NM_020533.3:c.241A>T MANE Select | NP_065394.1:p.Ile81Phe |