HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152648767A>T , CM000669.2:g.152648767A>T | GRCh38 |
NC_000007.13:g.152345852A>T , CM000669.1:g.152345852A>T | GRCh37 |
NC_000007.12:g.151976785A>T | NCBI36 |
NG_027988.1:g.32399T>A | |
NG_027988.2:g.32399T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698506.1:c.550T>A | ENSP00000513758.1:p.Phe184Ile | |
ENST00000359321.2:c.718T>A MANE Select | ENSP00000352271.1:p.Phe240Ile | |
ENST00000359321.1:c.718T>A | ENSP00000352271.1:p.Phe240Ile | |
ENST00000495707.1:n.740T>A | ||
NM_005431.1:c.718T>A | NP_005422.1:p.Phe240Ile | |
NM_005431.2:c.718T>A MANE Select | NP_005422.1:p.Phe240Ile |