Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20991687G>A , CM000684.2:g.20991687G>A | GRCh38 |
| NC_000022.10:g.21345976G>A , CM000684.1:g.21345976G>A | GRCh37 |
| NC_000022.9:g.19675976G>A | NCBI36 |
| NG_034193.1:g.14419G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006767.4:c.851G>A MANE Select | NP_006758.2:p.Arg284His |
| ENST00000646124.2:c.851G>A MANE Select | ENSP00000496779.1:p.Arg284His |
| NM_006767.3:c.851G>A | NP_006758.2:p.Arg284His |
| ENST00000215739.12:c.851G>A | ENSP00000215739.8:p.Arg284His |
| ENST00000479606.5:n.997G>A | |
| ENST00000495142.6:n.196G>A | |
| ENST00000497716.5:n.678G>A | |
| ENST00000642151.1:c.682G>A | |
| ENST00000643578.1:n.873G>A | |
| ENST00000646506.1:n.430G>A | |
| ENST00000700578.1:c.851G>A | ENSP00000515073.1:p.Arg284His |