Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56983602T>A , CM000678.2:g.56983602T>A | GRCh38 |
| NC_000016.9:g.57017514T>A , CM000678.1:g.57017514T>A | GRCh37 |
| NC_000016.8:g.55575015T>A | NCBI36 |
| NG_008952.1:g.26680T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000078.3:c.1418T>A MANE Select | NP_000069.2:p.Leu473Gln |
| ENST00000200676.8:c.1418T>A MANE Select | ENSP00000200676.3:p.Leu473Gln |
| NM_000078.2:c.1418T>A | NP_000069.2:p.Leu473Gln |
| NM_001286085.1:c.1238T>A | NP_001273014.1:p.Leu413Gln |
| NM_001286085.2:c.1238T>A | NP_001273014.1:p.Leu413Gln |
| ENST00000200676.7:c.1418T>A | ENSP00000200676.3:p.Leu473Gln |
| ENST00000379780.6:c.1238T>A | ENSP00000369106.2:p.Leu413Gln |
| ENST00000566128.1:c.1223T>A | ENSP00000456276.1:p.Leu408Gln |