HGVS | Genome Assembly |
---|---|
NC_000011.10:g.64750426G>A , CM000673.2:g.64750426G>A | GRCh38 |
NC_000011.9:g.64517898G>A , CM000673.1:g.64517898G>A | GRCh37 |
NC_000011.8:g.64274474G>A | NCBI36 |
NG_007574.1:g.31C>T , LRG_100:g.31C>T | |
NG_013018.1:g.15290C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000164139.4:c.2127C>T MANE Select | ENSP00000164139.3:p.Phe709= | |
ENST00000164139.3:c.2127C>T | ENSP00000164139.3:p.Phe709= | |
ENST00000377432.7:c.1863C>T | ENSP00000366650.3:p.Phe621= | |
NM_001164716.1:c.1863C>T | NP_001158188.1:p.Phe621= | |
NM_005609.2:c.2127C>T | NP_005600.1:p.Phe709= | |
NM_005609.3:c.2127C>T | NP_005600.1:p.Phe709= | |
NM_005609.4:c.2127C>T MANE Select | NP_005600.1:p.Phe709= |