HGVS | Genome Assembly |
---|---|
NC_000011.10:g.64758700A>T , CM000673.2:g.64758700A>T | GRCh38 |
NC_000011.9:g.64526172A>T , CM000673.1:g.64526172A>T | GRCh37 |
NC_000011.8:g.64282748A>T | NCBI36 |
NG_013018.1:g.7016T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000164139.4:c.248T>A MANE Select | ENSP00000164139.3:p.Ile83Asn | |
ENST00000164139.3:c.248T>A | ENSP00000164139.3:p.Ile83Asn | |
ENST00000377432.7:c.244-434T>A | ENSP00000366650.3:n.244-434T>A | |
NM_001164716.1:c.244-434T>A | NP_001158188.1:n.244-434T>A | |
NM_005609.2:c.248T>A | NP_005600.1:p.Ile83Asn | |
NM_005609.3:c.248T>A | NP_005600.1:p.Ile83Asn | |
NM_005609.4:c.248T>A MANE Select | NP_005600.1:p.Ile83Asn |