HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764502C>A , CM000674.2:g.57764502C>A | GRCh38 |
NC_000012.11:g.58158285C>A , CM000674.1:g.58158285C>A | GRCh37 |
NC_000012.10:g.56444552C>A | NCBI36 |
NG_007076.1:g.7692G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1093G>T | ENSP00000518840.1:p.Glu365Ter | |
ENST00000713545.1:c.*17G>T | ENSP00000518841.1:n.*17G>T | |
ENST00000228606.9:c.1012G>T MANE Select | ENSP00000228606.4:p.Glu338Ter | |
ENST00000228606.8:c.1012G>T | ENSP00000228606.4:p.Glu338Ter | |
ENST00000546567.5:c.307G>T | ENSP00000449472.1:p.Glu103Ter | |
ENST00000547344.5:n.1151G>T | ||
NM_000785.3:c.1012G>T | NP_000776.1:p.Glu338Ter | |
NM_000785.4:c.1012G>T MANE Select | NP_000776.1:p.Glu338Ter |