Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20994152G>C , CM000684.2:g.20994152G>C | GRCh38 |
| NC_000022.10:g.21348441G>C , CM000684.1:g.21348441G>C | GRCh37 |
| NC_000022.9:g.19678441G>C | NCBI36 |
| NG_034193.1:g.16884G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006767.4:c.1498G>C MANE Select | NP_006758.2:p.Ala500Pro |
| ENST00000646124.2:c.1498G>C MANE Select | ENSP00000496779.1:p.Ala500Pro |
| NM_006767.3:c.1498G>C | NP_006758.2:p.Ala500Pro |
| ENST00000215739.12:c.1498G>C | ENSP00000215739.8:p.Ala500Pro |
| ENST00000479606.5:n.1644G>C | |
| ENST00000492480.1:n.547G>C | |
| ENST00000495142.6:n.843G>C | |
| ENST00000642151.1:c.1329G>C | |
| ENST00000643578.1:n.1520G>C | |
| ENST00000643710.1:n.359G>C | |
| ENST00000646506.1:n.1077G>C | |
| ENST00000700578.1:c.1498G>C | ENSP00000515073.1:p.Ala500Pro |