HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189098744C>T , CM000664.2:g.189098744C>T | GRCh38 |
NC_000002.11:g.189963470C>T , CM000664.1:g.189963470C>T | GRCh37 |
NC_000002.10:g.189671715C>T | NCBI36 |
NG_011799.1:g.86136G>A | |
NG_011799.2:g.86136G>A | |
NG_011799.3:g.131558G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374866.9:c.385G>A MANE Select | ENSP00000364000.3:p.Gly129Ser | |
ENST00000649966.1:c.247G>A | ENSP00000496785.1:p.Gly83Ser | |
ENST00000374866.7:c.385G>A | ENSP00000364000.3:p.Gly129Ser | |
ENST00000618828.1:c.-246G>A | ENSP00000482184.1:n.-246G>A | |
NM_000393.3:c.385G>A | NP_000384.2:p.Gly129Ser | |
XM_011510573.1:c.247G>A | XP_011508875.1:p.Gly83Ser | |
NM_000393.4:c.385G>A | NP_000384.2:p.Gly129Ser | |
XM_011510573.3:c.247G>A | XP_011508875.1:p.Gly83Ser | |
NM_000393.5:c.385G>A MANE Select | NP_000384.2:p.Gly129Ser |