HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159321894C= , CM000667.2:g.159321894C= | GRCh38 |
NC_000005.9:g.158748902C= , CM000667.1:g.158748902C= | GRCh37 |
NC_000005.8:g.158681480C= | NCBI36 |
NG_009618.1:g.13580G= , LRG_71:g.13580G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.-148-1374G= | ENSP00000512849.1:n.-148-1374G= | |
ENST00000696751.1:c.364+1160G= | ENSP00000512850.1:n.364+1160G= | |
ENST00000231228.3:c.482+500G= MANE Select | ENSP00000231228.2:n.482+500G= | |
ENST00000231228.2:c.482+500G= | ENSP00000231228.2:n.482+500G= | |
NM_002187.2:c.482+500G= , LRG_71t1:c.482+500G= | NP_002178.2:n.482+500G= | |
XR_001742945.1:n.147+1298C= | ||
NM_002187.3:c.482+500G= MANE Select | NP_002178.2:n.482+500G= |