HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57562878G>C , CM000682.2:g.57562878G>C | GRCh38 |
NC_000020.10:g.56137934G>C , CM000682.1:g.56137934G>C | GRCh37 |
NC_000020.9:g.55571340G>C | NCBI36 |
NG_008205.1:g.6798G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000319441.6:c.589G>C MANE Select | ENSP00000319814.4:p.Gly197Arg | |
ENST00000319441.5:c.589G>C | ENSP00000319814.4:p.Gly197Arg | |
ENST00000467047.1:n.1799G>C | ||
ENST00000470051.1:n.45G>C | ||
ENST00000498194.1:n.531G>C | ||
NM_002591.3:c.589G>C | NP_002582.3:p.Gly197Arg | |
XM_011528839.1:c.193G>C | XP_011527141.1:p.Gly65Arg | |
XM_024451888.1:c.193G>C | XP_024307656.1:p.Gly65Arg | |
NM_002591.4:c.589G>C MANE Select | NP_002582.3:p.Gly197Arg |