Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767857C>T , CM000676.2:g.28767857C>T | GRCh38 |
| NC_000014.8:g.29237063C>T , CM000676.1:g.29237063C>T | GRCh37 |
| NC_000014.7:g.28306814C>T | NCBI36 |
| NG_009367.1:g.5777C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005249.5:c.578C>T MANE Select | NP_005240.3:p.Ala193Val |
| ENST00000313071.7:c.578C>T MANE Select | ENSP00000339004.3:p.Ala193Val |
| NM_005249.4:c.578C>T | NP_005240.3:p.Ala193Val |
| ENST00000313071.6:c.578C>T | ENSP00000339004.3:p.Ala193Val |
| ENST00000706482.1:c.578C>T | ENSP00000516406.1:p.Ala193Val |