HGVS | Genome Assembly |
---|---|
NC_000006.12:g.49448770C= , CM000668.2:g.49448770C= | GRCh38 |
NC_000006.11:g.49416483C= , CM000668.1:g.49416483C= | GRCh37 |
NC_000006.10:g.49524442C= | NCBI36 |
NG_007100.1:g.19370G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000274813.4:c.1444+46G= MANE Select | ENSP00000274813.3:n.1444+46G= | |
ENST00000274813.3:c.1444+46G= | ENSP00000274813.3:n.1444+46G= | |
NM_000255.3:c.1444+46G= | NP_000246.2:n.1444+46G= | |
XM_005249143.2:c.1444+46G= | XP_005249200.1:n.1444+46G= | |
XM_005249143.3:c.1444+46G= | XP_005249200.1:n.1444+46G= | |
NM_000255.4:c.1444+46G= MANE Select | NP_000246.2:n.1444+46G= |