HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159320453T>C , CM000667.2:g.159320453T>C | GRCh38 |
NC_000005.9:g.158747461T>C , CM000667.1:g.158747461T>C | GRCh37 |
NC_000005.8:g.158680039T>C | NCBI36 |
NG_009618.1:g.15021A>G , LRG_71:g.15021A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.-81A>G | ENSP00000512849.1:n.-81A>G | |
ENST00000696751.1:c.*45A>G | ENSP00000512850.1:n.*45A>G | |
ENST00000231228.3:c.550A>G MANE Select | ENSP00000231228.2:p.Asn184Asp | |
ENST00000231228.2:c.550A>G | ENSP00000231228.2:p.Asn184Asp | |
NM_002187.2:c.550A>G , LRG_71t1:c.550A>G | NP_002178.2:p.Asn184Asp | |
XR_001742945.1:n.4T>C | ||
NM_002187.3:c.550A>G MANE Select | NP_002178.2:p.Asn184Asp |