HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764046C= , CM000674.2:g.57764046C= | GRCh38 |
NC_000012.11:g.58157829C= , CM000674.1:g.58157829C= | GRCh37 |
NC_000012.10:g.56444096C= | NCBI36 |
NG_007076.1:g.8148G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1296+52G= | ENSP00000518840.1:n.1296+52G= | |
ENST00000713545.1:c.*220+52G= | ENSP00000518841.1:n.*220+52G= | |
ENST00000228606.9:c.1215+52G= MANE Select | ENSP00000228606.4:n.1215+52G= | |
ENST00000228606.8:c.1215+52G= | ENSP00000228606.4:n.1215+52G= | |
ENST00000547344.5:n.1354+52G= | ||
NM_000785.3:c.1215+52G= | NP_000776.1:n.1215+52G= | |
NM_000785.4:c.1215+52G= MANE Select | NP_000776.1:n.1215+52G= |