HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189045906C>G , CM000664.2:g.189045906C>G | GRCh38 |
NC_000002.11:g.189910632C>G , CM000664.1:g.189910632C>G | GRCh37 |
NC_000002.10:g.189618877C>G | NCBI36 |
NG_011799.1:g.138974G>C | |
NG_011799.2:g.138974G>C | |
NG_011799.3:g.184396G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000374866.9:c.3203G>C MANE Select | ENSP00000364000.3:p.Gly1068Ala | |
ENST00000374866.7:c.3203G>C | ENSP00000364000.3:p.Gly1068Ala | |
ENST00000618828.1:c.2042G>C | ENSP00000482184.1:p.Gly681Ala | |
NM_000393.3:c.3203G>C | NP_000384.2:p.Gly1068Ala | |
XM_011510573.1:c.3065G>C | XP_011508875.1:p.Gly1022Ala | |
NM_000393.4:c.3203G>C | NP_000384.2:p.Gly1068Ala | |
XM_011510573.3:c.3065G>C | XP_011508875.1:p.Gly1022Ala | |
NM_000393.5:c.3203G>C MANE Select | NP_000384.2:p.Gly1068Ala |