HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159323163A>G , CM000667.2:g.159323163A>G | GRCh38 |
NC_000005.9:g.158750171A>G , CM000667.1:g.158750171A>G | GRCh37 |
NC_000005.8:g.158682749A>G | NCBI36 |
NG_009618.1:g.12311T>C , LRG_71:g.12311T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.-148-2643T>C | ENSP00000512849.1:n.-148-2643T>C | |
ENST00000696751.1:c.255T>C | ENSP00000512850.1:p.Ala85= | |
ENST00000231228.3:c.255T>C MANE Select | ENSP00000231228.2:p.Ala85= | |
ENST00000231228.2:c.255T>C | ENSP00000231228.2:p.Ala85= | |
NM_002187.2:c.255T>C , LRG_71t1:c.255T>C | NP_002178.2:p.Ala85= | |
XR_001742945.1:n.148-2371A>G | ||
NM_002187.3:c.255T>C MANE Select | NP_002178.2:p.Ala85= |