Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52517922T>A , CM000674.2:g.52517922T>A | GRCh38 |
| NC_000012.11:g.52911706T>A , CM000674.1:g.52911706T>A | GRCh37 |
| NC_000012.10:g.51197973T>A | NCBI36 |
| NG_008297.1:g.7538A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.902A>T MANE Select | NP_000415.2:p.Asn301Ile |
| ENST00000252242.9:c.902A>T MANE Select | ENSP00000252242.4:p.Asn301Ile |
| NM_000424.3:c.902A>T | NP_000415.2:p.Asn301Ile |
| ENST00000252242.8:c.902A>T | ENSP00000252242.4:p.Asn301Ile |
| ENST00000547890.5:n.31A>T | |
| ENST00000548409.5:c.24A>T | |
| ENST00000551013.1:n.540A>T | |
| ENST00000551188.5:c.345A>T | |
| ENST00000552629.5:n.1000A>T |