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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.238397470C>G , CM000664.2:g.238397470C>G
GRCh38
NC_000002.11:g.239306111C>G , CM000664.1:g.239306111C>G
GRCh37
NC_000002.10:g.238970850C>G
NCBI36
NG_053055.1:g.81982C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000373327.5:c.1701C>G
MANE Select
ENSP00000362424.4:p.Leu567=
ENST00000373327.4:c.1701C>G
ENSP00000362424.4:p.Leu567=
ENST00000391993.7:c.1503C>G
ENSP00000375851.3:p.Leu501=
ENST00000462122.1:n.712C>G
ENST00000483951.1:n.49C>G
NM_001139490.1:c.1503C>G
NP_001132962.1:p.Leu501=
NM_015650.3:c.1701C>G
NP_056465.2:p.Leu567=
XM_006712414.1:c.1500C>G
XP_006712477.1:p.Leu500=
XM_011510944.1:c.1803C>G
XP_011509246.1:p.Leu601=
XM_011510945.1:c.1764C>G
XP_011509247.1:p.Leu588=
XM_011510946.1:c.1731C>G
XP_011509248.1:p.Leu577=
XM_011510947.1:c.1671C>G
XP_011509249.1:p.Leu557=
XM_011510948.1:c.1605C>G
XP_011509250.1:p.Leu535=
XM_011510950.1:c.669C>G
XP_011509252.1:p.Leu223=
XR_922902.1:n.2000C>G
XM_006712414.2:c.1500C>G
XP_006712477.1:p.Leu500=
XM_011510944.2:c.1803C>G
XP_011509246.1:p.Leu601=
XM_011510945.2:c.1764C>G
XP_011509247.1:p.Leu588=
XM_011510946.2:c.1731C>G
XP_011509248.1:p.Leu577=
XM_011510947.2:c.1671C>G
XP_011509249.1:p.Leu557=
XM_011510948.2:c.1605C>G
XP_011509250.1:p.Leu535=
XM_011510950.2:c.669C>G
XP_011509252.1:p.Leu223=
XM_017003789.1:c.1800C>G
XP_016859278.1:p.Leu600=
XR_001738696.1:n.1529C>G
XR_001738697.1:n.1526C>G
XR_922902.2:n.2063C>G
NM_015650.4:c.1701C>G
MANE Select
NP_056465.2:p.Leu567=