HGVS | Genome Assembly |
---|---|
NC_000007.14:g.1234063G= , CM000669.2:g.1234063G= | GRCh38 |
NC_000007.13:g.1273699G= , CM000669.1:g.1273699G= | GRCh37 |
NC_000007.12:g.1240225G= | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000316333.9:c.450+368G= MANE Select | ENSP00000314480.8:n.450+368G= | |
ENST00000316333.8:c.450+368G= | ENSP00000314480.8:n.450+368G= | |
NM_001080461.1:c.450+368G= | NP_001073930.1:n.450+368G= | |
NM_001080461.2:c.450+368G= | NP_001073930.1:n.450+368G= | |
NM_001080461.3:c.450+368G= MANE Select | NP_001073930.1:n.450+368G= |