Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20992858G>C , CM000684.2:g.20992858G>C | GRCh38 |
| NC_000022.10:g.21347147G>C , CM000684.1:g.21347147G>C | GRCh37 |
| NC_000022.9:g.19677147G>C | NCBI36 |
| NG_034193.1:g.15590G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006767.4:c.1214G>C MANE Select | NP_006758.2:p.Gly405Ala |
| ENST00000646124.2:c.1214G>C MANE Select | ENSP00000496779.1:p.Gly405Ala |
| NM_006767.3:c.1214G>C | NP_006758.2:p.Gly405Ala |
| ENST00000215739.12:c.1214G>C | ENSP00000215739.8:p.Gly405Ala |
| ENST00000479606.5:n.1360G>C | |
| ENST00000492480.1:n.270G>C | |
| ENST00000495142.6:n.559G>C | |
| ENST00000642151.1:c.1045G>C | |
| ENST00000643578.1:n.1236G>C | |
| ENST00000646506.1:n.793G>C | |
| ENST00000700578.1:c.1214G>C | ENSP00000515073.1:p.Gly405Ala |