Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20992894A>G , CM000684.2:g.20992894A>G | GRCh38 |
| NC_000022.10:g.21347183A>G , CM000684.1:g.21347183A>G | GRCh37 |
| NC_000022.9:g.19677183A>G | NCBI36 |
| NG_034193.1:g.15626A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006767.4:c.1250A>G MANE Select | NP_006758.2:p.Tyr417Cys |
| ENST00000646124.2:c.1250A>G MANE Select | ENSP00000496779.1:p.Tyr417Cys |
| NM_006767.3:c.1250A>G | NP_006758.2:p.Tyr417Cys |
| ENST00000215739.12:c.1250A>G | ENSP00000215739.8:p.Tyr417Cys |
| ENST00000479606.5:n.1396A>G | |
| ENST00000492480.1:n.306A>G | |
| ENST00000495142.6:n.595A>G | |
| ENST00000642151.1:c.1081A>G | |
| ENST00000643578.1:n.1272A>G | |
| ENST00000646506.1:n.829A>G | |
| ENST00000700578.1:c.1250A>G | ENSP00000515073.1:p.Tyr417Cys |