Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59211465G>A , CM000673.2:g.59211465G>A | GRCh38 |
| NC_000011.9:g.58978938G>A , CM000673.1:g.58978938G>A | GRCh37 |
| NC_000011.8:g.58735514G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001039396.2:c.1401C>T MANE Select | NP_001034485.1:p.Ala467= |
| ENST00000361050.4:c.1401C>T MANE Select | ENSP00000354335.3:p.Ala467= |
| NM_001039396.1:c.1401C>T | NP_001034485.1:p.Ala467= |
| ENST00000361050.3:c.1401C>T | ENSP00000354335.3:p.Ala467= |