HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189098758A>C , CM000664.2:g.189098758A>C | GRCh38 |
NC_000002.11:g.189963484A>C , CM000664.1:g.189963484A>C | GRCh37 |
NC_000002.10:g.189671729A>C | NCBI36 |
NG_011799.1:g.86122T>G | |
NG_011799.2:g.86122T>G | |
NG_011799.3:g.131544T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374866.9:c.371T>G MANE Select | ENSP00000364000.3:p.Val124Gly | |
ENST00000649966.1:c.233T>G | ENSP00000496785.1:p.Val78Gly | |
ENST00000374866.7:c.371T>G | ENSP00000364000.3:p.Val124Gly | |
ENST00000618828.1:c.-260T>G | ENSP00000482184.1:n.-260T>G | |
NM_000393.3:c.371T>G | NP_000384.2:p.Val124Gly | |
XM_011510573.1:c.233T>G | XP_011508875.1:p.Val78Gly | |
NM_000393.4:c.371T>G | NP_000384.2:p.Val124Gly | |
XM_011510573.3:c.233T>G | XP_011508875.1:p.Val78Gly | |
NM_000393.5:c.371T>G MANE Select | NP_000384.2:p.Val124Gly |