HGVS | Genome Assembly |
---|---|
NC_000001.11:g.202940846G>C , CM000663.2:g.202940846G>C | GRCh38 |
NC_000001.10:g.202909974G>C , CM000663.1:g.202909974G>C | GRCh37 |
NC_000001.9:g.201176597G>C | NCBI36 |
NG_052860.1:g.22727C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000340990.10:c.*727C>G MANE Select | ENSP00000341785.5:n.*727C>G | |
ENST00000340990.9:c.*727C>G | ENSP00000341785.5:n.*727C>G | |
ENST00000495562.5:n.2089C>G | ||
NM_001290553.1:c.*727C>G | NP_001277482.1:n.*727C>G | |
NM_001290557.1:c.*727C>G | NP_001277486.1:n.*727C>G | |
NM_001290629.1:c.*727C>G | NP_001277558.1:n.*727C>G | |
NM_015999.5:c.*727C>G | NP_057083.2:n.*727C>G | |
XM_017001407.1:c.*727C>G | XP_016856896.1:n.*727C>G | |
XM_024447427.1:c.*727C>G | XP_024303195.1:n.*727C>G | |
NM_015999.6:c.*727C>G MANE Select | NP_057083.2:n.*727C>G | |
NM_001290553.2:c.*727C>G | NP_001277482.1:n.*727C>G |