HGVS | Genome Assembly |
---|---|
NC_000002.12:g.113074645T>G , CM000664.2:g.113074645T>G | GRCh38 |
NC_000002.11:g.113832222T>G , CM000664.1:g.113832222T>G | GRCh37 |
NC_000002.10:g.113548693T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393197.3:c.119-78T>G | ENSP00000376893.2:n.119-78T>G | |
ENST00000341010.6:c.119-78T>G MANE Select | ENSP00000341794.2:n.119-78T>G | |
ENST00000393197.2:c.119-78T>G | ENSP00000376893.2:n.119-78T>G | |
ENST00000496265.1:n.107T>G | ||
NM_032556.5:c.119-78T>G | NP_115945.4:n.119-78T>G | |
NM_173161.2:c.119-78T>G | NP_775184.1:n.119-78T>G | |
NM_032556.6:c.119-78T>G | NP_115945.4:n.119-78T>G | |
NM_173161.3:c.119-78T>G MANE Select | NP_775184.1:n.119-78T>G |