HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1213486G>A , CM000667.2:g.1213486G>A | GRCh38 |
NC_000005.9:g.1213601G>A , CM000667.1:g.1213601G>A | GRCh37 |
NC_000005.8:g.1266601G>A | NCBI36 |
NG_008282.1:g.16892G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000304460.11:c.687G>A MANE Select | ENSP00000305302.10:p.Leu229= | |
ENST00000304460.10:c.687G>A | ENSP00000305302.10:p.Leu229= | |
ENST00000515652.5:c.595G>A | ENSP00000425701.1:p.Ala199Thr | |
NM_001003841.2:c.687G>A | NP_001003841.1:p.Leu229= | |
NM_001003841.3:c.687G>A MANE Select | NP_001003841.1:p.Leu229= |