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Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.101644194A>C , CM000670.2:g.101644194A>C
GRCh38
NC_000008.10:g.102656422A>C , CM000670.1:g.102656422A>C
GRCh37
NC_000008.9:g.102725598A>C
NCBI36
NG_011971.1:g.156755A>C
NG_011971.2:g.156755A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000646743.1:c.1581A>C
MANE Select
ENSP00000495564.1:p.Ser527=
ENST00000251808.7:c.1581A>C
ENSP00000251808.3:p.Ser527=
ENST00000395927.1:c.1533A>C
ENSP00000379260.1:p.Ser511=
ENST00000474338.1:n.223A>C
ENST00000517674.5:n.236A>C
NM_024915.3:c.1581A>C
NP_079191.2:p.Ser527=
XM_011517305.1:c.1533A>C
XP_011515607.1:p.Ser511=
XM_011517306.1:c.1533A>C
XP_011515608.1:p.Ser511=
XM_011517307.1:c.1581A>C
XP_011515609.1:p.Ser527=
NM_001330593.1:c.1533A>C
NP_001317522.1:p.Ser511=
XM_011517306.3:c.1533A>C
XP_011515608.1:p.Ser511=
XM_011517307.3:c.1581A>C
XP_011515609.1:p.Ser527=
NM_001330593.2:c.1533A>C
NP_001317522.1:p.Ser511=
NM_024915.4:c.1581A>C
MANE Select
NP_079191.2:p.Ser527=