HGVS | Genome Assembly |
---|---|
NC_000012.12:g.91055903A>T , CM000674.2:g.91055903A>T | GRCh38 |
NC_000012.11:g.91449680A>T , CM000674.1:g.91449680A>T | GRCh37 |
NC_000012.10:g.89973811A>T | NCBI36 |
NG_021223.1:g.7452T>A , LRG_538:g.7452T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266719.4:c.379T>A MANE Select | ENSP00000266719.3:p.Phe127Ile | |
ENST00000266719.3:c.379T>A | ENSP00000266719.3:p.Phe127Ile | |
NM_007035.3:c.379T>A , LRG_538t1:c.379T>A | NP_008966.1:p.Phe127Ile | |
XM_011537781.1:c.379T>A | XP_011536083.1:p.Phe127Ile | |
NM_007035.4:c.379T>A MANE Select | NP_008966.1:p.Phe127Ile |