HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57766061G>C , CM000674.2:g.57766061G>C | GRCh38 |
NC_000012.11:g.58159844G>C , CM000674.1:g.58159844G>C | GRCh37 |
NC_000012.10:g.56446111G>C | NCBI36 |
NG_007076.1:g.6133C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546609.2:n.244C>G | ||
ENST00000713544.1:c.332C>G | ENSP00000518840.1:p.Ser111Trp | |
ENST00000713545.1:c.332C>G | ENSP00000518841.1:p.Ser111Trp | |
ENST00000228606.9:c.332C>G MANE Select | ENSP00000228606.4:p.Ser111Trp | |
ENST00000228606.8:c.332C>G | ENSP00000228606.4:p.Ser111Trp | |
ENST00000546496.1:n.160C>G | ||
ENST00000546609.1:c.244C>G | ||
ENST00000547344.5:n.386C>G | ||
ENST00000552186.1:n.451C>G | ||
NM_000785.3:c.332C>G | NP_000776.1:p.Ser111Trp | |
NM_000785.4:c.332C>G MANE Select | NP_000776.1:p.Ser111Trp |