HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152648767A>G , CM000669.2:g.152648767A>G | GRCh38 |
NC_000007.13:g.152345852A>G , CM000669.1:g.152345852A>G | GRCh37 |
NC_000007.12:g.151976785A>G | NCBI36 |
NG_027988.1:g.32399T>C | |
NG_027988.2:g.32399T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698506.1:c.550T>C | ENSP00000513758.1:p.Phe184Leu | |
ENST00000359321.2:c.718T>C MANE Select | ENSP00000352271.1:p.Phe240Leu | |
ENST00000359321.1:c.718T>C | ENSP00000352271.1:p.Phe240Leu | |
ENST00000495707.1:n.740T>C | ||
NM_005431.1:c.718T>C | NP_005422.1:p.Phe240Leu | |
NM_005431.2:c.718T>C MANE Select | NP_005422.1:p.Phe240Leu |