HGVS | Genome Assembly |
---|---|
NC_000008.11:g.118947723T= , CM000670.2:g.118947723T= | GRCh38 |
NC_000008.10:g.119959962T= , CM000670.1:g.119959962T= | GRCh37 |
NC_000008.9:g.120029143T= | NCBI36 |
NG_012202.1:g.9422A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297350.9:c.30+4069A= MANE Select | ENSP00000297350.4:n.30+4069A= | |
ENST00000297350.8:c.30+4069A= | ENSP00000297350.4:n.30+4069A= | |
ENST00000517352.1:c.30+4069A= | ENSP00000427924.1:n.30+4069A= | |
NM_002546.3:c.30+4069A= | NP_002537.3:n.30+4069A= | |
NM_002546.4:c.30+4069A= MANE Select | NP_002537.3:n.30+4069A= |