HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1213486G= , CM000667.2:g.1213486G= | GRCh38 |
NC_000005.9:g.1213601G= , CM000667.1:g.1213601G= | GRCh37 |
NC_000005.8:g.1266601G= | NCBI36 |
NG_008282.1:g.16892G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000304460.11:c.687G= MANE Select | ENSP00000305302.10:p.Leu229= | |
ENST00000304460.10:c.687G= | ENSP00000305302.10:p.Leu229= | |
ENST00000515652.5:c.595G= | ENSP00000425701.1:p.Ala199= | |
NM_001003841.2:c.687G= | NP_001003841.1:p.Leu229= | |
NM_001003841.3:c.687G= MANE Select | NP_001003841.1:p.Leu229= |