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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.43877586C>G , CM000664.2:g.43877586C>G
GRCh38
NC_000002.11:g.44104725C>G , CM000664.1:g.44104725C>G
GRCh37
NC_000002.10:g.43958229C>G
NCBI36
NG_008884.1:g.43623C>G
NG_008884.2:g.50645C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000272286.4:c.1782C>G
MANE Select
ENSP00000272286.2:p.Ser594=
ENST00000272286.2:c.1782C>G
ENSP00000272286.2:p.Ser594=
NM_022437.2:c.1782C>G
NP_071882.1:p.Ser594=
XM_005264483.2:c.1779C>G
XP_005264540.1:p.Ser593=
XM_011533029.1:c.1794C>G
XP_011531331.1:p.Ser598=
XM_011533030.1:c.1791C>G
XP_011531332.1:p.Ser597=
XM_011533031.1:c.1566C>G
XP_011531333.1:p.Ser522=
XR_939707.1:n.2284C>G
NM_001357321.1:c.1779C>G
NP_001344250.1:p.Ser593=
XM_011533029.2:c.1794C>G
XP_011531331.1:p.Ser598=
XM_011533030.2:c.1791C>G
XP_011531332.1:p.Ser597=
XR_001738891.1:n.2298C>G
XR_939707.2:n.2298C>G
NM_022437.3:c.1782C>G
MANE Select
NP_071882.1:p.Ser594=
NM_001357321.2:c.1779C>G
NP_001344250.1:p.Ser593=