HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57766154A>C , CM000674.2:g.57766154A>C | GRCh38 |
NC_000012.11:g.58159937A>C , CM000674.1:g.58159937A>C | GRCh37 |
NC_000012.10:g.56446204A>C | NCBI36 |
NG_007076.1:g.6040T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546609.2:n.151T>G | ||
ENST00000713544.1:c.239T>G | ENSP00000518840.1:p.Phe80Cys | |
ENST00000713545.1:c.239T>G | ENSP00000518841.1:p.Phe80Cys | |
ENST00000228606.9:c.239T>G MANE Select | ENSP00000228606.4:p.Phe80Cys | |
ENST00000228606.8:c.239T>G | ENSP00000228606.4:p.Phe80Cys | |
ENST00000546496.1:n.67T>G | ||
ENST00000546609.1:c.151T>G | ||
ENST00000547344.5:n.293T>G | ||
ENST00000552186.1:n.358T>G | ||
NM_000785.3:c.239T>G | NP_000776.1:p.Phe80Cys | |
NM_000785.4:c.239T>G MANE Select | NP_000776.1:p.Phe80Cys |