HGVS | Genome Assembly |
---|---|
NC_000002.12:g.167302841A>G , CM000664.2:g.167302841A>G | GRCh38 |
NC_000002.11:g.168159351A>G , CM000664.1:g.168159351A>G | GRCh37 |
NC_000002.10:g.167867597A>G | NCBI36 |
NG_050644.1:g.14781A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000392690.4:c.-511+9507A>G MANE Select | ENSP00000376456.2:n.-511+9507A>G | |
XM_005246931.2:c.-511+9507A>G | XP_005246988.1:n.-511+9507A>G | |
XM_011512085.1:c.-527+9507A>G | XP_011510387.1:n.-527+9507A>G | |
XM_005246931.3:c.-511+9507A>G | XP_005246988.1:n.-511+9507A>G | |
XM_011512085.2:c.-527+9507A>G | XP_011510387.1:n.-527+9507A>G | |
NM_020981.4:c.-511+9507A>G MANE Select | NP_066191.1:n.-511+9507A>G |