HGVS | Genome Assembly |
---|---|
NC_000011.10:g.64751403C>A , CM000673.2:g.64751403C>A | GRCh38 |
NC_000011.9:g.64518875C>A , CM000673.1:g.64518875C>A | GRCh37 |
NC_000011.8:g.64275451C>A | NCBI36 |
NG_013018.1:g.14313G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000164139.4:c.1891G>T MANE Select | ENSP00000164139.3:p.Val631Phe | |
ENST00000164139.3:c.1891G>T | ENSP00000164139.3:p.Val631Phe | |
ENST00000377432.7:c.1627G>T | ENSP00000366650.3:p.Val543Phe | |
ENST00000462303.1:n.215G>T | ||
NM_001164716.1:c.1627G>T | NP_001158188.1:p.Val543Phe | |
NM_005609.2:c.1891G>T | NP_005600.1:p.Val631Phe | |
NM_005609.3:c.1891G>T | NP_005600.1:p.Val631Phe | |
NM_005609.4:c.1891G>T MANE Select | NP_005600.1:p.Val631Phe |