HGVS | Genome Assembly |
---|---|
NC_000002.12:g.112782573A>C , CM000664.2:g.112782573A>C | GRCh38 |
NC_000002.11:g.113540150A>C , CM000664.1:g.113540150A>C | GRCh37 |
NC_000002.10:g.113256621A>C | NCBI36 |
NG_008850.1:g.7822T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263339.4:c.96+143T>G MANE Select | ENSP00000263339.3:n.96+143T>G | |
ENST00000263339.3:c.96+143T>G | ENSP00000263339.3:n.96+143T>G | |
NM_000575.3:c.96+143T>G | NP_000566.3:n.96+143T>G | |
NM_000575.4:c.96+143T>G | NP_000566.3:n.96+143T>G | |
NM_000575.5:c.96+143T>G MANE Select | NP_000566.3:n.96+143T>G | |
NM_001371554.1:c.96+143T>G | NP_001358483.1:n.96+143T>G |