HGVS | Genome Assembly |
---|---|
NC_000017.11:g.14208535C>A , CM000679.2:g.14208535C>A | GRCh38 |
NC_000017.10:g.14111852C>A , CM000679.1:g.14111852C>A | GRCh37 |
NC_000017.9:g.14052577C>A | NCBI36 |
NG_008034.1:g.144134C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261643.8:c.*1322C>A MANE Select | ENSP00000261643.3:n.*1322C>A | |
ENST00000664217.1:c.*56-19C>A | ENSP00000499396.1:n.*56-19C>A | |
ENST00000670279.1:c.929-974C>A | ENSP00000499450.1:n.929-974C>A | |
ENST00000261643.7:c.*1322C>A | ENSP00000261643.3:n.*1322C>A | |
NM_001303.3:c.*1322C>A | NP_001294.2:n.*1322C>A | |
XM_011523658.1:c.*1322C>A | XP_011521960.1:n.*1322C>A | |
XR_933974.1:n.1032-974C>A | ||
NM_001303.4:c.*1322C>A MANE Select | NP_001294.2:n.*1322C>A |