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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.30672290G>A , CM000665.2:g.30672290G>A
GRCh38
NC_000003.11:g.30713782G>A , CM000665.1:g.30713782G>A
GRCh37
NC_000003.10:g.30688786G>A
NCBI36
NG_007490.1:g.70789G>A , LRG_779:g.70789G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000295754.10:c.1107G>A
MANE Select
ENSP00000295754.5:p.Gly369=
ENST00000672866.1:n.2703G>A
ENST00000295754.9:c.1107G>A
ENSP00000295754.5:p.Gly369=
ENST00000359013.4:c.1182G>A
ENSP00000351905.4:p.Gly394=
NM_001024847.2:c.1182G>A , LRG_779t1:c.1182G>A
NP_001020018.1:p.Gly394=
NM_003242.5:c.1107G>A
NP_003233.4:p.Gly369=
XM_011534043.1:c.1134G>A
XP_011532345.1:p.Gly378=
XM_011534044.1:c.1059G>A
XP_011532346.1:p.Gly353=
XM_011534045.1:c.1002G>A
XP_011532347.1:p.Gly334=
XM_011534043.2:c.1134G>A
XP_011532345.1:p.Gly378=
XM_011534045.3:c.1002G>A
XP_011532347.1:p.Gly334=
XM_017007106.1:c.1002G>A
XP_016862595.1:p.Gly334=
NM_003242.6:c.1107G>A
MANE Select
NP_003233.4:p.Gly369=