Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80274641T>A , CM000672.2:g.80274641T>A | GRCh38 |
| NC_000010.10:g.82034397T>A , CM000672.1:g.82034397T>A | GRCh37 |
| NC_000010.9:g.82024377T>A | NCBI36 |
| NG_008083.1:g.20038A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.964A>T MANE Select | ENSP00000361287.3:p.Ile322Phe | |
| ENST00000372213.7:c.964A>T | ENSP00000361287.3:p.Ile322Phe | |
| ENST00000480845.1:n.196A>T | ||
| ENST00000485270.5:n.476A>T | ||
| NM_000429.2:c.964A>T | NP_000420.1:p.Ile322Phe | |
| XM_005269842.3:c.964A>T | XP_005269899.1:p.Ile322Phe | |
| XM_005269843.3:c.841A>T | XP_005269900.1:p.Ile281Phe | |
| NM_000429.3:c.964A>T MANE Select | NP_000420.1:p.Ile322Phe |