Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17559117C>T , CM000673.2:g.17559117C>T | GRCh38 |
| NC_000011.9:g.17580664C>T , CM000673.1:g.17580664C>T | GRCh37 |
| NC_000011.8:g.17537240C>T | NCBI36 |
| NG_033191.1:g.16745C>T | |
| NG_033191.2:g.16745C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001292063.2:c.1169C>T MANE Select | NP_001278992.1:p.Ala390Val |
| ENST00000399397.6:c.1169C>T MANE Select | ENSP00000382329.2:p.Ala390Val |
| NM_001277269.1:c.1205C>T | NP_001264198.1:p.Ala402Val |
| NM_001277269.2:c.1205C>T | NP_001264198.1:p.Ala402Val |
| NM_001292063.1:c.1169C>T | NP_001278992.1:p.Ala390Val |
| ENST00000399391.6:c.1205C>T | ENSP00000382323.2:p.Ala402Val |
| ENST00000399391.7:c.1205C>T | ENSP00000382323.2:p.Ala402Val |
| ENST00000399397.5:c.1169C>T | ENSP00000382329.2:p.Ala390Val |
| ENST00000498332.5:n.1075C>T |