HGVS | Genome Assembly |
---|---|
NC_000014.9:g.22843120A>G , CM000676.2:g.22843120A>G | GRCh38 |
NC_000014.8:g.23312329A>G , CM000676.1:g.23312329A>G | GRCh37 |
NC_000014.7:g.22382169A>G | NCBI36 |
NG_046989.1:g.11588A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311852.11:c.689-137A>G MANE Select | ENSP00000308208.6:n.689-137A>G | |
ENST00000548162.2:c.689-137A>G | ENSP00000506068.1:n.689-137A>G | |
ENST00000680097.1:c.*4-137A>G | ENSP00000506631.1:n.*4-137A>G | |
ENST00000680941.1:c.*34A>G | ENSP00000506378.1:n.*34A>G | |
ENST00000311852.10:c.689-137A>G | ENSP00000308208.6:n.689-137A>G | |
ENST00000548162.1:n.931-137A>G | ||
NM_004995.3:c.689-137A>G | NP_004986.1:n.689-137A>G | |
NM_004995.4:c.689-137A>G MANE Select | NP_004986.1:n.689-137A>G |