HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52029833T>A , CM000666.2:g.52029833T>A | GRCh38 |
NC_000004.11:g.52895999T>A , CM000666.1:g.52895999T>A | GRCh37 |
NC_000004.10:g.52590756T>A | NCBI36 |
NG_008891.1:g.13487A>T , LRG_204:g.13487A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381431.10:c.274A>T MANE Select | ENSP00000370839.6:p.Ile92Phe | |
ENST00000381431.9:c.274A>T | ENSP00000370839.5:p.Ile92Phe | |
ENST00000506357.5:c.357A>T | ||
ENST00000514133.1:c.351A>T | ENSP00000425818.1:n.351A>T | |
NM_000232.4:c.274A>T , LRG_204t1:c.274A>T | NP_000223.1:p.Ile92Phe | |
XM_006714049.2:c.-24A>T | XP_006714112.1:n.-24A>T | |
XM_011534403.1:c.64A>T | XP_011532705.1:p.Ile22Phe | |
XM_011534404.1:c.-24A>T | XP_011532706.1:n.-24A>T | |
NM_000232.5:c.274A>T MANE Select | NP_000223.1:p.Ile92Phe |