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Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.13901369C>T , CM000667.2:g.13901369C>T
GRCh38
NC_000005.9:g.13901478C>T , CM000667.1:g.13901478C>T
GRCh37
NC_000005.8:g.13954478C>T
NCBI36
NG_013081.1:g.48112G>A
NG_013081.2:g.48112G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265104.5:c.1935G>A
MANE Select
ENSP00000265104.4:p.Gln645=
ENST00000681290.1:c.1890G>A
ENSP00000505288.1:p.Gln630=
ENST00000265104.4:c.1935G>A
ENSP00000265104.4:p.Gln645=
NM_001369.2:c.1935G>A
NP_001360.1:p.Gln645=
XM_005248262.2:c.1890G>A
XP_005248319.1:p.Gln630=
XM_011513990.1:c.1935G>A
XP_011512292.1:p.Gln645=
XR_925598.1:n.2142G>A
XM_005248262.3:c.2043G>A
XP_005248319.2:p.Gln681=
XM_017009177.1:c.2043G>A
XP_016864666.1:p.Gln681=
XM_017009178.1:c.948G>A
XP_016864667.1:p.Gln316=
XM_017009179.2:c.948G>A
XP_016864668.1:p.Gln316=
XM_017009180.1:c.2043G>A
XP_016864669.1:p.Gln681=
XM_017009181.1:c.2043G>A
XP_016864670.1:p.Gln681=
XM_017009182.1:c.2043G>A
XP_016864671.1:p.Gln681=
XM_017009183.1:c.2043G>A
XP_016864672.1:p.Gln681=
XM_017009184.1:c.2043G>A
XP_016864673.1:p.Gln681=
XM_017009187.1:c.2043G>A
XP_016864676.1:p.Gln681=
XM_024454388.1:c.948G>A
XP_024310156.1:p.Gln316=
XM_024454389.1:c.537G>A
XP_024310157.1:p.Gln179=
XR_001742034.1:n.2060G>A
XR_001742035.1:n.2060G>A
NM_001369.3:c.1935G>A
MANE Select
NP_001360.1:p.Gln645=