HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2278298T= , CM000678.2:g.2278298T= | GRCh38 |
NC_000016.9:g.2328299T= , CM000678.1:g.2328299T= | GRCh37 |
NC_000016.8:g.2268300T= | NCBI36 |
NG_011790.1:g.67449A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.4708A= MANE Select | ENSP00000301732.5:p.Thr1570= | |
ENST00000301732.9:c.4708A= | ENSP00000301732.5:p.Thr1570= | |
ENST00000382381.7:c.4534A= | ENSP00000371818.3:p.Thr1512= | |
ENST00000566200.1:n.1229A= | ||
NM_001089.2:c.4708A= | NP_001080.2:p.Thr1570= | |
NM_001089.3:c.4708A= MANE Select | NP_001080.2:p.Thr1570= |