HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24290789A= , CM000668.2:g.24290789A= | GRCh38 |
NC_000006.11:g.24291017A= , CM000668.1:g.24291017A= | GRCh37 |
NC_000006.10:g.24398996A= | NCBI36 |
NG_012829.1:g.72264T= | |
NG_012829.2:g.97504T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378454.8:c.704+143T= MANE Select | ENSP00000367715.3:n.704+143T= | |
ENST00000378454.7:c.704+143T= | ENSP00000367715.3:n.704+143T= | |
NM_001195610.1:c.704+143T= | NP_001182539.1:n.704+143T= | |
NM_016356.4:c.704+143T= | NP_057440.2:n.704+143T= | |
NM_016356.5:c.704+143T= MANE Select | NP_057440.2:n.704+143T= | |
NM_001195610.2:c.704+143T= | NP_001182539.1:n.704+143T= |