HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1213513C>A , CM000667.2:g.1213513C>A | GRCh38 |
NC_000005.9:g.1213628C>A , CM000667.1:g.1213628C>A | GRCh37 |
NC_000005.8:g.1266628C>A | NCBI36 |
NG_008282.1:g.16919C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000304460.11:c.714C>A MANE Select | ENSP00000305302.10:p.Leu238= | |
ENST00000304460.10:c.714C>A | ENSP00000305302.10:p.Leu238= | |
ENST00000515652.5:c.622C>A | ENSP00000425701.1:p.His208Asn | |
NM_001003841.2:c.714C>A | NP_001003841.1:p.Leu238= | |
NM_001003841.3:c.714C>A MANE Select | NP_001003841.1:p.Leu238= |