Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86510794C>A , CM000678.2:g.86510794C>A | GRCh38 |
| NC_000016.9:g.86544400C>A , CM000678.1:g.86544400C>A | GRCh37 |
| NC_000016.8:g.85101901C>A | NCBI36 |
| NG_016273.1:g.5268C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262426.6:c.225C>A MANE Select | ENSP00000262426.4:p.Tyr75Ter | |
| ENST00000262426.5:c.225C>A | ENSP00000262426.4:p.Tyr75Ter | |
| NM_001451.2:c.225C>A | NP_001442.2:p.Tyr75Ter | |
| NM_001451.3:c.225C>A MANE Select | NP_001442.2:p.Tyr75Ter |