HGVS | Genome Assembly |
---|---|
NC_000006.12:g.1610823C>T , CM000668.2:g.1610823C>T | GRCh38 |
NC_000006.11:g.1611058C>T , CM000668.1:g.1611058C>T | GRCh37 |
NC_000006.10:g.1556057C>T | NCBI36 |
NG_009368.1:g.5378C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000645831.2:c.378C>T MANE Select | ENSP00000493906.1:p.Ile126= | |
ENST00000380874.3:c.378C>T | ENSP00000370256.2:p.Ile126= | |
NM_001453.2:c.378C>T | NP_001444.2:p.Ile126= | |
NM_001453.3:c.378C>T MANE Select | NP_001444.2:p.Ile126= |