HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713469T>A , CM000681.2:g.6713469T>A | GRCh38 |
NC_000019.9:g.6713480T>A , CM000681.1:g.6713480T>A | GRCh37 |
NC_000019.8:g.6664480T>A | NCBI36 |
NG_009557.1:g.12183A>T , LRG_27:g.12183A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.691A>T | ENSP00000512083.1:p.Ile231Phe | |
ENST00000695692.1:n.138A>T | ||
ENST00000245907.11:c.814A>T MANE Select | ENSP00000245907.4:p.Ile272Phe | |
ENST00000245907.10:c.814A>T | ENSP00000245907.4:p.Ile272Phe | |
ENST00000595577.1:n.318A>T | ||
ENST00000597442.5:n.64A>T | ||
NM_000064.3:c.814A>T | NP_000055.2:p.Ile272Phe | |
NM_000064.4:c.814A>T MANE Select | NP_000055.2:p.Ile272Phe |