HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764550C>A , CM000674.2:g.57764550C>A | GRCh38 |
NC_000012.11:g.58158333C>A , CM000674.1:g.58158333C>A | GRCh37 |
NC_000012.10:g.56444600C>A | NCBI36 |
NG_007076.1:g.7644G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1045G>T | ENSP00000518840.1:p.Val349Leu | |
ENST00000713545.1:c.1022G>T | ENSP00000518841.1:p.Gly341Val | |
ENST00000228606.9:c.964G>T MANE Select | ENSP00000228606.4:p.Val322Leu | |
ENST00000228606.8:c.964G>T | ENSP00000228606.4:p.Val322Leu | |
ENST00000546567.5:c.259G>T | ENSP00000449472.1:p.Val87Leu | |
ENST00000547344.5:n.1103G>T | ||
ENST00000547451.1:n.967G>T | ||
NM_000785.3:c.964G>T | NP_000776.1:p.Val322Leu | |
NM_000785.4:c.964G>T MANE Select | NP_000776.1:p.Val322Leu |