Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20992894A>T , CM000684.2:g.20992894A>T | GRCh38 |
| NC_000022.10:g.21347183A>T , CM000684.1:g.21347183A>T | GRCh37 |
| NC_000022.9:g.19677183A>T | NCBI36 |
| NG_034193.1:g.15626A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006767.4:c.1250A>T MANE Select | NP_006758.2:p.Tyr417Phe |
| ENST00000646124.2:c.1250A>T MANE Select | ENSP00000496779.1:p.Tyr417Phe |
| NM_006767.3:c.1250A>T | NP_006758.2:p.Tyr417Phe |
| ENST00000215739.12:c.1250A>T | ENSP00000215739.8:p.Tyr417Phe |
| ENST00000479606.5:n.1396A>T | |
| ENST00000492480.1:n.306A>T | |
| ENST00000495142.6:n.595A>T | |
| ENST00000642151.1:c.1081A>T | |
| ENST00000643578.1:n.1272A>T | |
| ENST00000646506.1:n.829A>T | |
| ENST00000700578.1:c.1250A>T | ENSP00000515073.1:p.Tyr417Phe |