HGVS | Genome Assembly |
---|---|
NC_000023.11:g.54495021G= , CM000685.2:g.54495021G= | GRCh38 |
NC_000023.10:g.54521454G= , CM000685.1:g.54521454G= | GRCh37 |
NC_000023.9:g.54538179G= | NCBI36 |
NG_008054.1:g.6146C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375135.4:c.307+105C= MANE Select | ENSP00000364277.3:n.307+105C= | |
ENST00000375135.3:c.307+105C= | ENSP00000364277.3:n.307+105C= | |
NM_004463.2:c.307+105C= | NP_004454.2:n.307+105C= | |
NM_004463.3:c.307+105C= MANE Select | NP_004454.2:n.307+105C= |