HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57766113C>G , CM000674.2:g.57766113C>G | GRCh38 |
NC_000012.11:g.58159896C>G , CM000674.1:g.58159896C>G | GRCh37 |
NC_000012.10:g.56446163C>G | NCBI36 |
NG_007076.1:g.6081G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546609.2:n.192G>C | ||
ENST00000713544.1:c.280G>C | ENSP00000518840.1:p.Val94Leu | |
ENST00000713545.1:c.280G>C | ENSP00000518841.1:p.Val94Leu | |
ENST00000228606.9:c.280G>C MANE Select | ENSP00000228606.4:p.Val94Leu | |
ENST00000228606.8:c.280G>C | ENSP00000228606.4:p.Val94Leu | |
ENST00000546496.1:n.108G>C | ||
ENST00000546609.1:c.192G>C | ||
ENST00000547344.5:n.334G>C | ||
ENST00000552186.1:n.399G>C | ||
NM_000785.3:c.280G>C | NP_000776.1:p.Val94Leu | |
NM_000785.4:c.280G>C MANE Select | NP_000776.1:p.Val94Leu |