Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20991782G>A , CM000684.2:g.20991782G>A | GRCh38 |
| NC_000022.10:g.21346071G>A , CM000684.1:g.21346071G>A | GRCh37 |
| NC_000022.9:g.19676071G>A | NCBI36 |
| NG_034193.1:g.14514G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006767.4:c.946G>A MANE Select | NP_006758.2:p.Val316Met |
| ENST00000646124.2:c.946G>A MANE Select | ENSP00000496779.1:p.Val316Met |
| NM_006767.3:c.946G>A | NP_006758.2:p.Val316Met |
| ENST00000215739.12:c.946G>A | ENSP00000215739.8:p.Val316Met |
| ENST00000461510.1:n.47G>A | |
| ENST00000479606.5:n.1092G>A | |
| ENST00000492480.1:n.2G>A | |
| ENST00000495142.6:n.291G>A | |
| ENST00000497716.5:n.773G>A | |
| ENST00000642151.1:c.777G>A | |
| ENST00000643578.1:n.968G>A | |
| ENST00000646506.1:n.525G>A | |
| ENST00000700578.1:c.946G>A | ENSP00000515073.1:p.Val316Met |