HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57766506C>A , CM000674.2:g.57766506C>A | GRCh38 |
NC_000012.11:g.58160289C>A , CM000674.1:g.58160289C>A | GRCh37 |
NC_000012.10:g.56446556C>A | NCBI36 |
NG_007076.1:g.5688G>T | |
NG_047060.1:g.10626G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546609.2:n.108-309G>T | ||
ENST00000713544.1:c.196-309G>T | ENSP00000518840.1:n.196-309G>T | |
ENST00000713545.1:c.196-309G>T | ENSP00000518841.1:n.196-309G>T | |
ENST00000228606.9:c.196-309G>T MANE Select | ENSP00000228606.4:n.196-309G>T | |
ENST00000228606.8:c.196-309G>T | ENSP00000228606.4:n.196-309G>T | |
ENST00000546609.1:c.108-309G>T | ||
ENST00000547344.5:n.250-309G>T | ||
ENST00000552186.1:n.6G>T | ||
NM_000785.3:c.196-309G>T | NP_000776.1:n.196-309G>T | |
NM_000785.4:c.196-309G>T MANE Select | NP_000776.1:n.196-309G>T |