HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764549A>G , CM000674.2:g.57764549A>G | GRCh38 |
NC_000012.11:g.58158332A>G , CM000674.1:g.58158332A>G | GRCh37 |
NC_000012.10:g.56444599A>G | NCBI36 |
NG_007076.1:g.7645T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1046T>C | ENSP00000518840.1:p.Val349Ala | |
ENST00000713545.1:c.1023T>C | ENSP00000518841.1:p.Gly341= | |
ENST00000228606.9:c.965T>C MANE Select | ENSP00000228606.4:p.Val322Ala | |
ENST00000228606.8:c.965T>C | ENSP00000228606.4:p.Val322Ala | |
ENST00000546567.5:c.260T>C | ENSP00000449472.1:p.Val87Ala | |
ENST00000547344.5:n.1104T>C | ||
ENST00000547451.1:n.968T>C | ||
NM_000785.3:c.965T>C | NP_000776.1:p.Val322Ala | |
NM_000785.4:c.965T>C MANE Select | NP_000776.1:p.Val322Ala |