HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57766100A>C , CM000674.2:g.57766100A>C | GRCh38 |
NC_000012.11:g.58159883A>C , CM000674.1:g.58159883A>C | GRCh37 |
NC_000012.10:g.56446150A>C | NCBI36 |
NG_007076.1:g.6094T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546609.2:n.205T>G | ||
ENST00000713544.1:c.293T>G | ENSP00000518840.1:p.Leu98Arg | |
ENST00000713545.1:c.293T>G | ENSP00000518841.1:p.Leu98Arg | |
ENST00000228606.9:c.293T>G MANE Select | ENSP00000228606.4:p.Leu98Arg | |
ENST00000228606.8:c.293T>G | ENSP00000228606.4:p.Leu98Arg | |
ENST00000546496.1:n.121T>G | ||
ENST00000546609.1:c.205T>G | ||
ENST00000547344.5:n.347T>G | ||
ENST00000552186.1:n.412T>G | ||
NM_000785.3:c.293T>G | NP_000776.1:p.Leu98Arg | |
NM_000785.4:c.293T>G MANE Select | NP_000776.1:p.Leu98Arg |