HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159322002T= , CM000667.2:g.159322002T= | GRCh38 |
NC_000005.9:g.158749010T= , CM000667.1:g.158749010T= | GRCh37 |
NC_000005.8:g.158681588T= | NCBI36 |
NG_009618.1:g.13472A= , LRG_71:g.13472A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696750.1:c.-148-1482A= | ENSP00000512849.1:n.-148-1482A= | |
ENST00000696751.1:c.364+1052A= | ENSP00000512850.1:n.364+1052A= | |
ENST00000231228.3:c.482+392A= MANE Select | ENSP00000231228.2:n.482+392A= | |
ENST00000231228.2:c.482+392A= | ENSP00000231228.2:n.482+392A= | |
NM_002187.2:c.482+392A= , LRG_71t1:c.482+392A= | NP_002178.2:n.482+392A= | |
XR_001742945.1:n.147+1406T= | ||
NM_002187.3:c.482+392A= MANE Select | NP_002178.2:n.482+392A= |