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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.30674140A>T , CM000665.2:g.30674140A>T
GRCh38
NC_000003.11:g.30715632A>T , CM000665.1:g.30715632A>T
GRCh37
NC_000003.10:g.30690636A>T
NCBI36
NG_007490.1:g.72639A>T , LRG_779:g.72639A>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000295754.10:c.1290A>T
MANE Select
ENSP00000295754.5:p.Leu430=
ENST00000672866.1:n.2886A>T
ENST00000673203.1:n.168A>T
ENST00000295754.9:c.1290A>T
ENSP00000295754.5:p.Leu430=
ENST00000359013.4:c.1365A>T
ENSP00000351905.4:p.Leu455=
NM_001024847.2:c.1365A>T , LRG_779t1:c.1365A>T
NP_001020018.1:p.Leu455=
NM_003242.5:c.1290A>T
NP_003233.4:p.Leu430=
XM_011534043.1:c.1317A>T
XP_011532345.1:p.Leu439=
XM_011534044.1:c.1242A>T
XP_011532346.1:p.Leu414=
XM_011534045.1:c.1185A>T
XP_011532347.1:p.Leu395=
XM_011534043.2:c.1317A>T
XP_011532345.1:p.Leu439=
XM_011534045.3:c.1185A>T
XP_011532347.1:p.Leu395=
XM_017007106.1:c.1185A>T
XP_016862595.1:p.Leu395=
NM_003242.6:c.1290A>T
MANE Select
NP_003233.4:p.Leu430=