HGVS | Genome Assembly |
---|---|
NC_000002.12:g.167709183A>C , CM000664.2:g.167709183A>C | GRCh38 |
NC_000002.11:g.168565693A>C , CM000664.1:g.168565693A>C | GRCh37 |
NC_000002.10:g.168273939A>C | NCBI36 |
NG_050644.1:g.421123A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000392690.4:c.-352+62217A>C MANE Select | ENSP00000376456.2:n.-352+62217A>C | |
XM_005246931.2:c.-352+62217A>C | XP_005246988.1:n.-352+62217A>C | |
XM_011512084.1:c.-352+62217A>C | XP_011510386.1:n.-352+62217A>C | |
XM_011512085.1:c.-368+62217A>C | XP_011510387.1:n.-368+62217A>C | |
XM_005246931.3:c.-352+62217A>C | XP_005246988.1:n.-352+62217A>C | |
XM_011512085.2:c.-368+62217A>C | XP_011510387.1:n.-368+62217A>C | |
NM_020981.4:c.-352+62217A>C MANE Select | NP_066191.1:n.-352+62217A>C |