HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189062900C>T , CM000664.2:g.189062900C>T | GRCh38 |
NC_000002.11:g.189927626C>T , CM000664.1:g.189927626C>T | GRCh37 |
NC_000002.10:g.189635871C>T | NCBI36 |
NG_011799.1:g.121980G>A | |
NG_011799.2:g.121980G>A | |
NG_011799.3:g.167402G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374866.9:c.1942G>A MANE Select | ENSP00000364000.3:p.Gly648Ser | |
ENST00000374866.7:c.1942G>A | ENSP00000364000.3:p.Gly648Ser | |
ENST00000470524.2:n.48G>A | ||
ENST00000618828.1:c.781G>A | ENSP00000482184.1:p.Gly261Ser | |
NM_000393.3:c.1942G>A | NP_000384.2:p.Gly648Ser | |
XM_011510573.1:c.1804G>A | XP_011508875.1:p.Gly602Ser | |
NM_000393.4:c.1942G>A | NP_000384.2:p.Gly648Ser | |
XM_011510573.3:c.1804G>A | XP_011508875.1:p.Gly602Ser | |
NM_000393.5:c.1942G>A MANE Select | NP_000384.2:p.Gly648Ser |