HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159323280C>A , CM000667.2:g.159323280C>A | GRCh38 |
NC_000005.9:g.158750288C>A , CM000667.1:g.158750288C>A | GRCh37 |
NC_000005.8:g.158682866C>A | NCBI36 |
NG_009618.1:g.12194G>T , LRG_71:g.12194G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.-148-2760G>T | ENSP00000512849.1:n.-148-2760G>T | |
ENST00000696751.1:c.138G>T | ENSP00000512850.1:p.Val46= | |
ENST00000231228.3:c.138G>T MANE Select | ENSP00000231228.2:p.Val46= | |
ENST00000231228.2:c.138G>T | ENSP00000231228.2:p.Val46= | |
NM_002187.2:c.138G>T , LRG_71t1:c.138G>T | NP_002178.2:p.Val46= | |
XR_001742945.1:n.148-2254C>A | ||
NM_002187.3:c.138G>T MANE Select | NP_002178.2:p.Val46= |