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