HGVS | Genome Assembly |
---|---|
NC_000001.11:g.114713840T>A , CM000663.2:g.114713840T>A | GRCh38 |
NC_000001.10:g.115256461T>A , CM000663.1:g.115256461T>A | GRCh37 |
NC_000001.9:g.115057984T>A | NCBI36 |
NG_007572.1:g.8055A>T , LRG_92:g.8055A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369535.5:c.250A>T MANE Select | ENSP00000358548.4:p.Ile84Phe | |
ENST00000369535.4:c.250A>T | ENSP00000358548.4:p.Ile84Phe | |
NM_002524.4:c.250A>T | NP_002515.1:p.Ile84Phe | |
NM_002524.5:c.250A>T MANE Select | NP_002515.1:p.Ile84Phe |