HGVS | Genome Assembly |
---|---|
NC_000005.10:g.174725087G= , CM000667.2:g.174725087G= | GRCh38 |
NC_000005.9:g.174152090G= , CM000667.1:g.174152090G= | GRCh37 |
NC_000005.8:g.174084696G= | NCBI36 |
NG_008124.1:g.5516G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000239243.7:c.379+49G= MANE Select | ENSP00000239243.5:n.379+49G= | |
ENST00000239243.6:c.379+49G= | ENSP00000239243.5:n.379+49G= | |
ENST00000507785.2:c.*3+20G= | ENSP00000427425.1:n.*3+20G= | |
NM_002449.4:c.379+49G= | NP_002440.2:n.379+49G= | |
NM_001363626.1:c.*3+20G= | NP_001350555.1:n.*3+20G= | |
NM_002449.5:c.379+49G= MANE Select | NP_002440.2:n.379+49G= | |
NM_001363626.2:c.*3+20G= | NP_001350555.1:n.*3+20G= |