Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8076341T>C , CM000679.2:g.8076341T>C | GRCh38 |
| NC_000017.10:g.7979659T>C , CM000679.1:g.7979659T>C | GRCh37 |
| NC_000017.9:g.7920384T>C | NCBI36 |
| NG_007099.1:g.16363A>G | |
| NG_007099.2:g.16376A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.1366A>G MANE Select | ENSP00000497784.1:p.Met456Val | |
| ENST00000649809.1:c.430A>G | ENSP00000496845.1:p.Met144Val | |
| ENST00000319144.4:c.1366A>G | ENSP00000315167.4:p.Met456Val | |
| ENST00000577351.5:n.313A>G | ||
| ENST00000583276.5:n.750A>G | ||
| ENST00000584116.1:n.622A>G | ||
| NM_001139.2:c.1366A>G | NP_001130.1:p.Met456Val | |
| NM_001139.3:c.1366A>G MANE Select | NP_001130.1:p.Met456Val |