HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52022839C>A , CM000666.2:g.52022839C>A | GRCh38 |
NC_000004.11:g.52889005C>A , CM000666.1:g.52889005C>A | GRCh37 |
NC_000004.10:g.52583762C>A | NCBI36 |
NG_008891.1:g.20481G>T , LRG_204:g.20481G>T | |
NG_053164.1:g.2473G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381431.10:c.*1118G>T MANE Select | ENSP00000370839.6:n.*1118G>T | |
ENST00000381431.9:c.*1118G>T | ENSP00000370839.5:n.*1118G>T | |
NM_000232.4:c.*1118G>T , LRG_204t1:c.*1118G>T | NP_000223.1:n.*1118G>T | |
XM_006714049.2:c.*1118G>T | XP_006714112.1:n.*1118G>T | |
XM_011534403.1:c.*1118G>T | XP_011532705.1:n.*1118G>T | |
XM_011534404.1:c.*1118G>T | XP_011532706.1:n.*1118G>T | |
NM_000232.5:c.*1118G>T MANE Select | NP_000223.1:n.*1118G>T |