HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189009020A>T , CM000664.2:g.189009020A>T | GRCh38 |
NC_000002.11:g.189873746A>T , CM000664.1:g.189873746A>T | GRCh37 |
NC_000002.10:g.189581991A>T | NCBI36 |
NG_007404.1:g.39648A>T , LRG_3:g.39648A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450867.2:c.3523A>T | ENSP00000415346.2:p.Ile1175Phe | |
ENST00000304636.9:c.3622A>T MANE Select | ENSP00000304408.4:p.Ile1208Phe | |
ENST00000304636.7:c.3622A>T | ENSP00000304408.3:p.Ile1208Phe | |
ENST00000317840.9:c.2713A>T | ENSP00000315243.6:p.Ile905Phe | |
ENST00000487010.1:n.719A>T | ||
NM_000090.3:c.3622A>T , LRG_3t1:c.3622A>T | NP_000081.1:p.Ile1208Phe | |
NM_000090.4:c.3622A>T MANE Select | NP_000081.2:p.Ile1208Phe |