HGVS | Genome Assembly |
---|---|
NC_000017.11:g.14206803C>T , CM000679.2:g.14206803C>T | GRCh38 |
NC_000017.10:g.14110120C>T , CM000679.1:g.14110120C>T | GRCh37 |
NC_000017.9:g.14050845C>T | NCBI36 |
NG_008034.1:g.142402C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261643.8:c.929-7C>T MANE Select | ENSP00000261643.3:n.929-7C>T | |
ENST00000664217.1:c.929-7C>T | ENSP00000499396.1:n.929-7C>T | |
ENST00000670279.1:c.929-2706C>T | ENSP00000499450.1:n.929-2706C>T | |
ENST00000261643.7:c.929-7C>T | ENSP00000261643.3:n.929-7C>T | |
ENST00000580561.1:c.*418-7C>T | ENSP00000462190.1:n.*418-7C>T | |
ENST00000581931.5:c.*297-7C>T | ENSP00000462512.1:n.*297-7C>T | |
NM_001303.3:c.929-7C>T | NP_001294.2:n.929-7C>T | |
XM_011523657.1:c.696-7C>T | XP_011521959.1:n.696-7C>T | |
XM_011523658.1:c.353-7C>T | XP_011521960.1:n.353-7C>T | |
XR_933974.1:n.1032-2706C>T | ||
NM_001303.4:c.929-7C>T MANE Select | NP_001294.2:n.929-7C>T |