HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159321963C= , CM000667.2:g.159321963C= | GRCh38 |
NC_000005.9:g.158748971C= , CM000667.1:g.158748971C= | GRCh37 |
NC_000005.8:g.158681549C= | NCBI36 |
NG_009618.1:g.13511G= , LRG_71:g.13511G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.-148-1443G= | ENSP00000512849.1:n.-148-1443G= | |
ENST00000696751.1:c.364+1091G= | ENSP00000512850.1:n.364+1091G= | |
ENST00000231228.3:c.482+431G= MANE Select | ENSP00000231228.2:n.482+431G= | |
ENST00000231228.2:c.482+431G= | ENSP00000231228.2:n.482+431G= | |
NM_002187.2:c.482+431G= , LRG_71t1:c.482+431G= | NP_002178.2:n.482+431G= | |
XR_001742945.1:n.147+1367C= | ||
NM_002187.3:c.482+431G= MANE Select | NP_002178.2:n.482+431G= |