HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57766182G>C , CM000674.2:g.57766182G>C | GRCh38 |
NC_000012.11:g.58159965G>C , CM000674.1:g.58159965G>C | GRCh37 |
NC_000012.10:g.56446232G>C | NCBI36 |
NG_007076.1:g.6012C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546609.2:n.123C>G | ||
ENST00000713544.1:c.211C>G | ENSP00000518840.1:p.His71Asp | |
ENST00000713545.1:c.211C>G | ENSP00000518841.1:p.His71Asp | |
ENST00000228606.9:c.211C>G MANE Select | ENSP00000228606.4:p.His71Asp | |
ENST00000228606.8:c.211C>G | ENSP00000228606.4:p.His71Asp | |
ENST00000546496.1:n.39C>G | ||
ENST00000546609.1:c.123C>G | ||
ENST00000547344.5:n.265C>G | ||
ENST00000552186.1:n.330C>G | ||
NM_000785.3:c.211C>G | NP_000776.1:p.His71Asp | |
NM_000785.4:c.211C>G MANE Select | NP_000776.1:p.His71Asp |