Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20991734G>C , CM000684.2:g.20991734G>C | GRCh38 |
| NC_000022.10:g.21346023G>C , CM000684.1:g.21346023G>C | GRCh37 |
| NC_000022.9:g.19676023G>C | NCBI36 |
| NG_034193.1:g.14466G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006767.4:c.898G>C MANE Select | NP_006758.2:p.Gly300Arg |
| ENST00000646124.2:c.898G>C MANE Select | ENSP00000496779.1:p.Gly300Arg |
| NM_006767.3:c.898G>C | NP_006758.2:p.Gly300Arg |
| ENST00000215739.12:c.898G>C | ENSP00000215739.8:p.Gly300Arg |
| ENST00000479606.5:n.1044G>C | |
| ENST00000495142.6:n.243G>C | |
| ENST00000497716.5:n.725G>C | |
| ENST00000642151.1:c.729G>C | |
| ENST00000643578.1:n.920G>C | |
| ENST00000646506.1:n.477G>C | |
| ENST00000700578.1:c.898G>C | ENSP00000515073.1:p.Gly300Arg |