Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1201703T>A , CM000667.2:g.1201703T>A | GRCh38 |
| NC_000005.9:g.1201818T>A , CM000667.1:g.1201818T>A | GRCh37 |
| NC_000005.8:g.1254818T>A | NCBI36 |
| NG_008282.1:g.5109T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001003841.3:c.53T>A MANE Select | NP_001003841.1:p.Leu18Gln |
| ENST00000304460.11:c.53T>A MANE Select | ENSP00000305302.10:p.Leu18Gln |
| NM_001003841.2:c.53T>A | NP_001003841.1:p.Leu18Gln |
| ENST00000304460.10:c.53T>A | ENSP00000305302.10:p.Leu18Gln |
| ENST00000515652.5:c.53T>A | ENSP00000425701.1:p.Leu18Gln |