Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.16749943A>T , CM000682.2:g.16749943A>T | GRCh38 |
| NC_000020.10:g.16730588A>T , CM000682.1:g.16730588A>T | GRCh37 |
| NC_000020.9:g.16678588A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020157.4:c.296A>T MANE Select | NP_064542.1:p.Tyr99Phe |
| ENST00000246081.3:c.296A>T MANE Select | ENSP00000246081.3:p.Tyr99Phe |
| NM_020157.3:c.296A>T | NP_064542.1:p.Tyr99Phe |
| ENST00000246081.2:c.296A>T | ENSP00000246081.2:p.Tyr99Phe |
| ENST00000486129.1:n.292A>T | |
| ENST00000490148.1:n.101+469A>T | |
| XM_005260762.1:c.296A>T | XP_005260819.1:p.Tyr99Phe |
| XM_017027959.2:c.296A>T | XP_016883448.1:p.Tyr99Phe |