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Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.70757994G>A , CM000672.2:g.70757994G>A
GRCh38
NC_000010.10:g.72517750G>A , CM000672.1:g.72517750G>A
GRCh37
NC_000010.9:g.72187756G>A
NCBI36
NG_042147.1:g.90192G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000373207.2:c.2970G>A
MANE Select
ENSP00000362303.1:p.Gln990=
ENST00000373207.1:c.2970G>A
ENSP00000362303.1:p.Gln990=
ENST00000373208.5:c.2979G>A
ENSP00000362304.1:p.Gln993=
NM_080722.3:c.2970G>A
NP_542453.2:p.Gln990=
NM_139155.2:c.2979G>A
NP_631894.2:p.Gln993=
XM_011539300.1:c.2469G>A
XP_011537602.1:p.Gln823=
XM_011539301.1:c.2043G>A
XP_011537603.1:p.Gln681=
XM_011539302.1:c.2043G>A
XP_011537604.1:p.Gln681=
XM_011539308.1:c.*49G>A
XP_011537610.1:n.*49G>A
XM_011539309.1:c.1539G>A
XP_011537611.1:p.Gln513=
NM_080722.4:c.2970G>A
MANE Select
NP_542453.2:p.Gln990=
NM_139155.3:c.2979G>A
NP_631894.2:p.Gln993=
XM_011539300.2:c.2469G>A
XP_011537602.1:p.Gln823=
XM_011539301.2:c.2043G>A
XP_011537603.1:p.Gln681=
XM_011539302.2:c.2043G>A
XP_011537604.1:p.Gln681=
XM_011539308.2:c.*49G>A
XP_011537610.1:n.*49G>A