HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154997048T>A , CM000685.2:g.154997048T>A | GRCh38 |
NC_000023.10:g.154225323T>A , CM000685.1:g.154225323T>A | GRCh37 |
NC_000023.9:g.153878517T>A | NCBI36 |
NG_011403.1:g.30676A>T | |
NG_011403.2:g.30676A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.313A>T MANE Select | ENSP00000353393.4:p.Ile105Phe | |
ENST00000647125.1:c.*99A>T | ENSP00000496062.1:n.*99A>T | |
ENST00000360256.8:c.313A>T | ENSP00000353393.4:p.Ile105Phe | |
ENST00000423959.5:c.208A>T | ENSP00000409446.1:p.Ile70Phe | |
ENST00000453950.1:c.295A>T | ENSP00000389153.1:p.Ile99Phe | |
NM_000132.3:c.313A>T | NP_000123.1:p.Ile105Phe | |
XM_011531126.1:c.208A>T | XP_011529428.1:p.Ile70Phe | |
NM_000132.4:c.313A>T MANE Select | NP_000123.1:p.Ile105Phe |