HGVS | Genome Assembly |
---|---|
NC_000003.12:g.81646570T>C , CM000665.2:g.81646570T>C | GRCh38 |
NC_000003.11:g.81695721T>C , CM000665.1:g.81695721T>C | GRCh37 |
NC_000003.10:g.81778411T>C | NCBI36 |
NG_011810.1:g.120231A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000429644.7:c.692-88A>G MANE Select | ENSP00000410833.2:n.692-88A>G | |
ENST00000429644.6:c.692-88A>G | ENSP00000410833.2:n.692-88A>G | |
ENST00000489715.1:c.569-88A>G | ENSP00000419638.1:n.569-88A>G | |
ENST00000498468.1:n.220-66A>G | ||
NM_000158.3:c.692-88A>G | NP_000149.3:n.692-88A>G | |
NM_000158.4:c.692-88A>G MANE Select | NP_000149.4:n.692-88A>G |