HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24178226G= , CM000668.2:g.24178226G= | GRCh38 |
NC_000006.11:g.24178454G= , CM000668.1:g.24178454G= | GRCh37 |
NC_000006.10:g.24286433G= | NCBI36 |
NG_012829.1:g.184827C= | |
NG_012829.2:g.210067C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378454.8:c.1326+104C= MANE Select | ENSP00000367715.3:n.1326+104C= | |
ENST00000378450.6:c.585+104C= | ENSP00000367711.3:n.585+104C= | |
ENST00000378454.7:c.1326+104C= | ENSP00000367715.3:n.1326+104C= | |
NM_001195610.1:c.1326+104C= | NP_001182539.1:n.1326+104C= | |
NM_016356.4:c.1326+104C= | NP_057440.2:n.1326+104C= | |
NM_016356.5:c.1326+104C= MANE Select | NP_057440.2:n.1326+104C= | |
NM_001195610.2:c.1326+104C= | NP_001182539.1:n.1326+104C= |