Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519054T>A , CM000674.2:g.52519054T>A | GRCh38 |
| NC_000012.11:g.52912838T>A , CM000674.1:g.52912838T>A | GRCh37 |
| NC_000012.10:g.51199105T>A | NCBI36 |
| NG_008297.1:g.6406A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.662A>T MANE Select | NP_000415.2:p.Gln221Leu |
| ENST00000252242.9:c.662A>T MANE Select | ENSP00000252242.4:p.Gln221Leu |
| NM_000424.3:c.662A>T | NP_000415.2:p.Gln221Leu |
| ENST00000252242.8:c.662A>T | ENSP00000252242.4:p.Gln221Leu |
| ENST00000549420.1:c.332A>T | ENSP00000447209.1:p.Gln111Leu |
| ENST00000551013.1:n.190A>T | |
| ENST00000551188.5:c.64A>T | |
| ENST00000552629.5:n.760A>T |