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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.30674137C>G , CM000665.2:g.30674137C>G
GRCh38
NC_000003.11:g.30715629C>G , CM000665.1:g.30715629C>G
GRCh37
NC_000003.10:g.30690633C>G
NCBI36
NG_007490.1:g.72636C>G , LRG_779:g.72636C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000295754.10:c.1287C>G
MANE Select
ENSP00000295754.5:p.Val429=
ENST00000672866.1:n.2883C>G
ENST00000673203.1:n.165C>G
ENST00000295754.9:c.1287C>G
ENSP00000295754.5:p.Val429=
ENST00000359013.4:c.1362C>G
ENSP00000351905.4:p.Val454=
NM_001024847.2:c.1362C>G , LRG_779t1:c.1362C>G
NP_001020018.1:p.Val454=
NM_003242.5:c.1287C>G
NP_003233.4:p.Val429=
XM_011534043.1:c.1314C>G
XP_011532345.1:p.Val438=
XM_011534044.1:c.1239C>G
XP_011532346.1:p.Val413=
XM_011534045.1:c.1182C>G
XP_011532347.1:p.Val394=
XM_011534043.2:c.1314C>G
XP_011532345.1:p.Val438=
XM_011534045.3:c.1182C>G
XP_011532347.1:p.Val394=
XM_017007106.1:c.1182C>G
XP_016862595.1:p.Val394=
NM_003242.6:c.1287C>G
MANE Select
NP_003233.4:p.Val429=