HGVS | Genome Assembly |
---|---|
NC_000017.11:g.14208600C>G , CM000679.2:g.14208600C>G | GRCh38 |
NC_000017.10:g.14111917C>G , CM000679.1:g.14111917C>G | GRCh37 |
NC_000017.9:g.14052642C>G | NCBI36 |
NG_008034.1:g.144199C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261643.8:c.*1387C>G MANE Select | ENSP00000261643.3:n.*1387C>G | |
ENST00000664217.1:c.*102C>G | ENSP00000499396.1:n.*102C>G | |
ENST00000670279.1:c.929-909C>G | ENSP00000499450.1:n.929-909C>G | |
ENST00000261643.7:c.*1387C>G | ENSP00000261643.3:n.*1387C>G | |
NM_001303.3:c.*1387C>G | NP_001294.2:n.*1387C>G | |
XM_011523658.1:c.*1387C>G | XP_011521960.1:n.*1387C>G | |
XR_933974.1:n.1032-909C>G | ||
NM_001303.4:c.*1387C>G MANE Select | NP_001294.2:n.*1387C>G |