HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1213529C>G , CM000667.2:g.1213529C>G | GRCh38 |
NC_000005.9:g.1213644C>G , CM000667.1:g.1213644C>G | GRCh37 |
NC_000005.8:g.1266644C>G | NCBI36 |
NG_008282.1:g.16935C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000304460.11:c.730C>G MANE Select | ENSP00000305302.10:p.Leu244Val | |
ENST00000304460.10:c.730C>G | ENSP00000305302.10:p.Leu244Val | |
ENST00000515652.5:c.638C>G | ENSP00000425701.1:p.Ala213Gly | |
NM_001003841.2:c.730C>G | NP_001003841.1:p.Leu244Val | |
NM_001003841.3:c.730C>G MANE Select | NP_001003841.1:p.Leu244Val |