HGVS | Genome Assembly |
---|---|
NC_000001.11:g.115738275T>A , CM000663.2:g.115738275T>A | GRCh38 |
NC_000001.10:g.116280896T>A , CM000663.1:g.116280896T>A | GRCh37 |
NC_000001.9:g.116082419T>A | NCBI36 |
NG_008802.1:g.35531A>T , LRG_404:g.35531A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000488931.2:c.205A>T | ENSP00000518226.1:p.Ile69Phe | |
ENST00000261448.6:c.481A>T MANE Select | ENSP00000261448.5:p.Ile161Phe | |
ENST00000261448.5:c.481A>T | ENSP00000261448.5:p.Ile161Phe | |
NM_001232.3:c.481A>T , LRG_404t1:c.481A>T | NP_001223.2:p.Ile161Phe | |
NM_001232.4:c.481A>T MANE Select | NP_001223.2:p.Ile161Phe |