HGVS | Genome Assembly |
---|---|
NC_000007.14:g.1234060G= , CM000669.2:g.1234060G= | GRCh38 |
NC_000007.13:g.1273696G= , CM000669.1:g.1273696G= | GRCh37 |
NC_000007.12:g.1240222G= | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000316333.9:c.450+365G= MANE Select | ENSP00000314480.8:n.450+365G= | |
ENST00000316333.8:c.450+365G= | ENSP00000314480.8:n.450+365G= | |
NM_001080461.1:c.450+365G= | NP_001073930.1:n.450+365G= | |
NM_001080461.2:c.450+365G= | NP_001073930.1:n.450+365G= | |
NM_001080461.3:c.450+365G= MANE Select | NP_001073930.1:n.450+365G= |