HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159320377T>G , CM000667.2:g.159320377T>G | GRCh38 |
NC_000005.9:g.158747385T>G , CM000667.1:g.158747385T>G | GRCh37 |
NC_000005.8:g.158679963T>G | NCBI36 |
NG_009618.1:g.15097A>C , LRG_71:g.15097A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.-5A>C | ENSP00000512849.1:n.-5A>C | |
ENST00000696751.1:c.*121A>C | ENSP00000512850.1:n.*121A>C | |
ENST00000231228.3:c.626A>C MANE Select | ENSP00000231228.2:p.Glu209Ala | |
ENST00000231228.2:c.626A>C | ENSP00000231228.2:p.Glu209Ala | |
NM_002187.2:c.626A>C , LRG_71t1:c.626A>C | NP_002178.2:p.Glu209Ala | |
NM_002187.3:c.626A>C MANE Select | NP_002178.2:p.Glu209Ala |