HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764145C>T , CM000674.2:g.57764145C>T | GRCh38 |
NC_000012.11:g.58157928C>T , CM000674.1:g.58157928C>T | GRCh37 |
NC_000012.10:g.56444195C>T | NCBI36 |
NG_007076.1:g.8049G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1249G>A | ENSP00000518840.1:p.Val417Ile | |
ENST00000713545.1:c.*173G>A | ENSP00000518841.1:n.*173G>A | |
ENST00000228606.9:c.1168G>A MANE Select | ENSP00000228606.4:p.Val390Ile | |
ENST00000228606.8:c.1168G>A | ENSP00000228606.4:p.Val390Ile | |
ENST00000546567.5:c.463G>A | ENSP00000449472.1:p.Val155Ile | |
ENST00000547344.5:n.1307G>A | ||
NM_000785.3:c.1168G>A | NP_000776.1:p.Val390Ile | |
NM_000785.4:c.1168G>A MANE Select | NP_000776.1:p.Val390Ile |