HGVS | Genome Assembly |
---|---|
NC_000003.12:g.8745661C>A , CM000665.2:g.8745661C>A | GRCh38 |
NC_000003.11:g.8787347C>A , CM000665.1:g.8787347C>A | GRCh37 |
NC_000003.10:g.8762347C>A | NCBI36 |
NG_008797.2:g.16852C>A , LRG_329:g.16852C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000343849.3:c.250C>A MANE Select | ENSP00000341940.2:p.Leu84Met | |
ENST00000343849.2:c.250C>A | ENSP00000341940.2:p.Leu84Met | |
ENST00000397368.2:c.250C>A | ENSP00000380525.2:p.Leu84Met | |
ENST00000472766.1:n.155+11671C>A | ||
NM_001234.4:c.250C>A | NP_001225.1:p.Leu84Met | |
NM_033337.2:c.250C>A , LRG_329t1:c.250C>A | NP_203123.1:p.Leu84Met | |
NM_001234.5:c.250C>A | NP_001225.1:p.Leu84Met | |
NM_033337.3:c.250C>A MANE Select | NP_203123.1:p.Leu84Met |