HGVS | Genome Assembly |
---|---|
NC_000001.11:g.186839211G>T , CM000663.2:g.186839211G>T | GRCh38 |
NC_000001.10:g.186808343G>T , CM000663.1:g.186808343G>T | GRCh37 |
NC_000001.9:g.185074966G>T | NCBI36 |
NG_012203.1:g.15312G>T | |
NG_012203.2:g.15312G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367466.4:c.-70+10176G>T MANE Select | ENSP00000356436.3:n.-70+10176G>T | |
ENST00000367466.3:c.-70+10176G>T | ENSP00000356436.3:n.-70+10176G>T | |
NM_001311193.1:c.-70+10176G>T | NP_001298122.1:n.-70+10176G>T | |
NM_024420.2:c.-70+10176G>T | NP_077734.1:n.-70+10176G>T | |
XM_011509642.1:c.-70+10161G>T | XP_011507944.1:n.-70+10161G>T | |
XM_011509642.2:c.-70+10161G>T | XP_011507944.1:n.-70+10161G>T | |
NM_001311193.2:c.-70+10176G>T | NP_001298122.2:n.-70+10176G>T | |
NM_024420.3:c.-70+10176G>T MANE Select | NP_077734.2:n.-70+10176G>T |