HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764533A>T , CM000674.2:g.57764533A>T | GRCh38 |
NC_000012.11:g.58158316A>T , CM000674.1:g.58158316A>T | GRCh37 |
NC_000012.10:g.56444583A>T | NCBI36 |
NG_007076.1:g.7661T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1062T>A | ENSP00000518840.1:p.Ser354= | |
ENST00000713545.1:c.1039T>A | ENSP00000518841.1:p.Leu347Met | |
ENST00000228606.9:c.981T>A MANE Select | ENSP00000228606.4:p.Ser327= | |
ENST00000228606.8:c.981T>A | ENSP00000228606.4:p.Ser327= | |
ENST00000546567.5:c.276T>A | ENSP00000449472.1:p.Ser92= | |
ENST00000547344.5:n.1120T>A | ||
NM_000785.3:c.981T>A | NP_000776.1:p.Ser327= | |
NM_000785.4:c.981T>A MANE Select | NP_000776.1:p.Ser327= |