Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20994167C>G , CM000684.2:g.20994167C>G | GRCh38 |
| NC_000022.10:g.21348456C>G , CM000684.1:g.21348456C>G | GRCh37 |
| NC_000022.9:g.19678456C>G | NCBI36 |
| NG_034193.1:g.16899C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006767.4:c.1513C>G MANE Select | NP_006758.2:p.Arg505Gly |
| ENST00000646124.2:c.1513C>G MANE Select | ENSP00000496779.1:p.Arg505Gly |
| NM_006767.3:c.1513C>G | NP_006758.2:p.Arg505Gly |
| ENST00000215739.12:c.1513C>G | ENSP00000215739.8:p.Arg505Gly |
| ENST00000479606.5:n.1659C>G | |
| ENST00000492480.1:n.562C>G | |
| ENST00000495142.6:n.858C>G | |
| ENST00000642151.1:c.1344C>G | |
| ENST00000643578.1:n.1535C>G | |
| ENST00000643710.1:n.374C>G | |
| ENST00000646506.1:n.1092C>G | |
| ENST00000700578.1:c.1513C>G | ENSP00000515073.1:p.Arg505Gly |