Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142741212G>T , CM000670.2:g.142741212G>T | GRCh38 |
| NC_000008.10:g.143822630G>T , CM000670.1:g.143822630G>T | GRCh37 |
| NC_000008.9:g.143819632G>T | NCBI36 |
| NG_011494.1:g.6200C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020427.3:c.243C>A MANE Select | NP_065160.1:p.Asp81Glu |
| ENST00000246515.2:c.243C>A MANE Select | ENSP00000246515.1:p.Asp81Glu |
| NM_020427.2:c.243C>A | NP_065160.1:p.Asp81Glu |
| ENST00000246515.1:c.243C>A | ENSP00000246515.1:p.Asp81Glu |