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Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.85271346T= , CM000685.2:g.85271346T=
GRCh38
NC_000023.10:g.84526352T= , CM000685.1:g.84526352T=
GRCh37
NC_000023.9:g.84413008T=
NCBI36
NG_012535.1:g.32356T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000674551.1:c.1942T=
MANE Select
ENSP00000502839.1:p.Ser648=
ENST00000276123.7:c.1804T=
ENSP00000276123.3:p.Ser602=
ENST00000360700.4:c.1942T=
ENSP00000353922.4:p.Ser648=
ENST00000373165.7:c.1804T=
ENSP00000362260.3:p.Ser602=
NM_021998.4:c.1804T=
NP_068838.3:p.Ser602=
XM_005262186.1:c.1942T=
XP_005262243.1:p.Ser648=
XM_005262187.1:c.1942T=
XP_005262244.1:p.Ser648=
XM_005262188.1:c.1942T=
XP_005262245.1:p.Ser648=
XM_005262189.1:c.1804T=
XP_005262246.1:p.Ser602=
XM_011531019.1:c.1954T=
XP_011529321.1:p.Ser652=
XM_011531020.1:c.1954T=
XP_011529322.1:p.Ser652=
XM_011531021.1:c.1954T=
XP_011529323.1:p.Ser652=
XM_011531022.1:c.1954T=
XP_011529324.1:p.Ser652=
XM_011531023.1:c.1954T=
XP_011529325.1:p.Ser652=
XM_011531024.1:c.1942T=
XP_011529326.1:p.Ser648=
XM_011531025.1:c.1816T=
XP_011529327.1:p.Ser606=
XM_011531026.1:c.1804T=
XP_011529328.1:p.Ser602=
NM_001330574.1:c.1942T=
NP_001317503.1:p.Ser648=
XM_005262186.3:c.1942T=
XP_005262243.1:p.Ser648=
XM_005262189.3:c.1804T=
XP_005262246.1:p.Ser602=
XM_011531023.3:c.1954T=
XP_011529325.1:p.Ser652=
XM_017029803.1:c.1954T=
XP_016885292.1:p.Ser652=
XM_017029805.1:c.1942T=
XP_016885294.1:p.Ser648=
XM_017029807.1:c.1804T=
XP_016885296.1:p.Ser602=
XM_017029808.1:c.1804T=
XP_016885297.1:p.Ser602=
XM_017029809.1:c.1804T=
XP_016885298.1:p.Ser602=
NM_001330574.2:c.1942T=
MANE Select
NP_001317503.1:p.Ser648=
NM_001375431.1:c.1942T=
NP_001362360.1:p.Ser648=
NM_001375432.1:c.1942T=
NP_001362361.1:p.Ser648=
NM_001375433.1:c.1942T=
NP_001362362.1:p.Ser648=
NM_001375434.1:c.1804T=
NP_001362363.1:p.Ser602=
NM_001375435.1:c.1804T=
NP_001362364.1:p.Ser602=
NM_001375436.1:c.1804T=
NP_001362365.1:p.Ser602=
NM_001375437.1:c.1804T=
NP_001362366.1:p.Ser602=
NM_021998.5:c.1804T=
NP_068838.3:p.Ser602=