HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57766485C= , CM000674.2:g.57766485C= | GRCh38 |
NC_000012.11:g.58160268C= , CM000674.1:g.58160268C= | GRCh37 |
NC_000012.10:g.56446535C= | NCBI36 |
NG_007076.1:g.5709G= | |
NG_047060.1:g.10647G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546609.2:n.108-288G= | ||
ENST00000713544.1:c.196-288G= | ENSP00000518840.1:n.196-288G= | |
ENST00000713545.1:c.196-288G= | ENSP00000518841.1:n.196-288G= | |
ENST00000228606.9:c.196-288G= MANE Select | ENSP00000228606.4:n.196-288G= | |
ENST00000228606.8:c.196-288G= | ENSP00000228606.4:n.196-288G= | |
ENST00000546609.1:c.108-288G= | ||
ENST00000547344.5:n.250-288G= | ||
ENST00000552186.1:n.27G= | ||
NM_000785.3:c.196-288G= | NP_000776.1:n.196-288G= | |
NM_000785.4:c.196-288G= MANE Select | NP_000776.1:n.196-288G= |