Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178983212T>C , CM000667.2:g.178983212T>C | GRCh38 |
| NC_000005.9:g.178410213T>C , CM000667.1:g.178410213T>C | GRCh37 |
| NC_000005.8:g.178342819T>C | NCBI36 |
| NG_008105.1:g.16912A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000843.4:c.2134A>G MANE Select | NP_000834.2:p.Met712Val |
| ENST00000517717.3:c.2134A>G MANE Select | ENSP00000430767.1:p.Met712Val |
| NM_000843.3:c.2134A>G | NP_000834.2:p.Met712Val |
| ENST00000231188.9:c.2134A>G | ENSP00000231188.5:p.Met712Val |
| ENST00000517717.1:c.2134A>G | ENSP00000430767.1:p.Met712Val |
| ENST00000519003.1:n.133A>G | |
| ENST00000650031.1:c.2134A>G | ENSP00000497110.1:p.Met712Val |
| ENST00000650488.1:n.857A>G | |
| XR_941310.1:n.1470-6535T>C |