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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.238397536C>G , CM000664.2:g.238397536C>G
GRCh38
NC_000002.11:g.239306177C>G , CM000664.1:g.239306177C>G
GRCh37
NC_000002.10:g.238970916C>G
NCBI36
NG_053055.1:g.82048C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000373327.5:c.1767C>G
MANE Select
ENSP00000362424.4:p.Ser589=
ENST00000373327.4:c.1767C>G
ENSP00000362424.4:p.Ser589=
ENST00000391993.7:c.1569C>G
ENSP00000375851.3:p.Ser523=
ENST00000462122.1:n.778C>G
ENST00000483951.1:n.115C>G
NM_001139490.1:c.1569C>G
NP_001132962.1:p.Ser523=
NM_015650.3:c.1767C>G
NP_056465.2:p.Ser589=
XM_006712414.1:c.1566C>G
XP_006712477.1:p.Ser522=
XM_011510944.1:c.1869C>G
XP_011509246.1:p.Ser623=
XM_011510945.1:c.1830C>G
XP_011509247.1:p.Ser610=
XM_011510946.1:c.1797C>G
XP_011509248.1:p.Ser599=
XM_011510947.1:c.1737C>G
XP_011509249.1:p.Ser579=
XM_011510948.1:c.1671C>G
XP_011509250.1:p.Ser557=
XM_011510950.1:c.735C>G
XP_011509252.1:p.Ser245=
XR_922902.1:n.2066C>G
XM_006712414.2:c.1566C>G
XP_006712477.1:p.Ser522=
XM_011510944.2:c.1869C>G
XP_011509246.1:p.Ser623=
XM_011510945.2:c.1830C>G
XP_011509247.1:p.Ser610=
XM_011510946.2:c.1797C>G
XP_011509248.1:p.Ser599=
XM_011510947.2:c.1737C>G
XP_011509249.1:p.Ser579=
XM_011510948.2:c.1671C>G
XP_011509250.1:p.Ser557=
XM_011510950.2:c.735C>G
XP_011509252.1:p.Ser245=
XM_017003789.1:c.1866C>G
XP_016859278.1:p.Ser622=
XR_001738696.1:n.1595C>G
XR_001738697.1:n.1592C>G
NM_015650.4:c.1767C>G
MANE Select
NP_056465.2:p.Ser589=