Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.96549431C>G , CM000668.2:g.96549431C>G | GRCh38 |
| NC_000006.11:g.96997307C>G , CM000668.1:g.96997307C>G | GRCh37 |
| NC_000006.10:g.97104028C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369278.5:c.1540C>G MANE Select | ENSP00000358283.4:p.Leu514Val | |
| ENST00000369278.4:c.1540C>G | ENSP00000358283.4:p.Leu514Val | |
| NM_015323.4:c.1540C>G | NP_056138.1:p.Leu514Val | |
| NM_015323.5:c.1540C>G MANE Select | NP_056138.1:p.Leu514Val |