HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215888962T>C , CM000663.2:g.215888962T>C | GRCh38 |
NC_000001.10:g.216062304T>C , CM000663.1:g.216062304T>C | GRCh37 |
NC_000001.9:g.214128927T>C | NCBI36 |
NG_009497.1:g.539435A>G | |
NG_009497.2:g.539487A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.7687A>G MANE Select | ENSP00000305941.3:p.Ile2563Val | |
ENST00000674083.1:c.7687A>G | ENSP00000501296.1:p.Ile2563Val | |
ENST00000307340.7:c.7687A>G | ENSP00000305941.3:p.Ile2563Val | |
NM_206933.2:c.7687A>G | NP_996816.2:p.Ile2563Val | |
NM_206933.3:c.7687A>G | NP_996816.2:p.Ile2563Val | |
NM_206933.4:c.7687A>G MANE Select | NP_996816.3:p.Ile2563Val |