Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94769802C>T , CM000676.2:g.94769802C>T | GRCh38 |
| NC_000014.8:g.95236139C>T , CM000676.1:g.95236139C>T | GRCh37 |
| NC_000014.7:g.94305892C>T | NCBI36 |
| NG_034111.1:g.5361G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173849.3:c.214G>A MANE Select | NP_776248.1:p.Ala72Thr |
| ENST00000238558.5:c.214G>A MANE Select | ENSP00000238558.3:p.Ala72Thr |
| NM_173849.2:c.214G>A | NP_776248.1:p.Ala72Thr |
| ENST00000238558.4:c.214G>A | ENSP00000238558.3:p.Ala72Thr |