HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154762T>A , CM000668.2:g.3154762T>A | GRCh38 |
NC_000006.11:g.3154996T>A , CM000668.1:g.3154996T>A | GRCh37 |
NC_000006.10:g.3099995T>A | NCBI36 |
NG_042223.1:g.7788A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333628.4:c.439A>T MANE Select | ENSP00000369703.2:p.Met147Leu | |
ENST00000679400.1:n.495A>T | ||
ENST00000679907.1:n.827A>T | ||
ENST00000680036.1:n.1221A>T | ||
ENST00000680967.1:n.1529A>T | ||
ENST00000333628.3:c.439A>T | ENSP00000369703.2:p.Met147Leu | |
ENST00000489942.1:n.634A>T | ||
NM_001069.2:c.439A>T | NP_001060.1:p.Met147Leu | |
NM_001310315.1:c.184A>T | NP_001297244.1:p.Met62Leu | |
NM_001069.3:c.439A>T MANE Select | NP_001060.1:p.Met147Leu | |
NM_001310315.2:c.184A>T | NP_001297244.1:p.Met62Leu |