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Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.40605643C>G , CM000681.2:g.40605643C>G
GRCh38
NC_000019.9:g.41111549C>G , CM000681.1:g.41111549C>G
GRCh37
NC_000019.8:g.45803389C>G
NCBI36
NG_021201.1:g.17478C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000396819.8:c.681C>G
MANE Select
ENSP00000380031.5:p.Arg227=
ENST00000204005.13:c.771C>G
ENSP00000204005.10:p.Arg257=
ENST00000308370.11:c.882C>G
ENSP00000311905.8:p.Arg294=
ENST00000396819.7:c.681C>G
ENSP00000380031.4:p.Arg227=
ENST00000598717.5:n.428+5540C>G
NM_001042544.1:c.882C>G
NP_001036009.1:p.Arg294=
NM_001042545.1:c.681C>G
NP_001036010.1:p.Arg227=
NM_003573.2:c.771C>G
NP_003564.2:p.Arg257=
XM_011527376.1:c.882C>G
XP_011525678.1:p.Arg294=
XM_011527377.1:c.915C>G
XP_011525679.1:p.Arg305=
XM_011527378.1:c.915C>G
XP_011525680.1:p.Arg305=
XM_011527379.1:c.681C>G
XP_011525681.1:p.Arg227=
XM_011527380.1:c.915C>G
XP_011525682.1:p.Arg305=
XM_011527381.1:c.915C>G
XP_011525683.1:p.Arg305=
XM_011527382.1:c.915C>G
XP_011525684.1:p.Arg305=
XM_011527383.1:c.915C>G
XP_011525685.1:p.Arg305=
XM_011527384.1:c.915C>G
XP_011525686.1:p.Arg305=
XM_011527385.1:c.915C>G
XP_011525687.1:p.Arg305=
XM_011527386.1:c.915C>G
XP_011525688.1:p.Arg305=
XM_011527387.1:c.273C>G
XP_011525689.1:p.Arg91=
XM_011527376.2:c.882C>G
XP_011525678.1:p.Arg294=
XM_011527377.2:c.915C>G
XP_011525679.1:p.Arg305=
XM_011527378.2:c.915C>G
XP_011525680.1:p.Arg305=
XM_011527380.2:c.915C>G
XP_011525682.1:p.Arg305=
XM_011527381.2:c.915C>G
XP_011525683.1:p.Arg305=
XM_011527382.2:c.915C>G
XP_011525684.1:p.Arg305=
XM_011527383.2:c.915C>G
XP_011525685.1:p.Arg305=
XM_011527384.2:c.915C>G
XP_011525686.1:p.Arg305=
XM_011527385.2:c.915C>G
XP_011525687.1:p.Arg305=
XM_011527386.2:c.915C>G
XP_011525688.1:p.Arg305=
XM_017027352.1:c.915C>G
XP_016882841.1:p.Arg305=
XM_017027353.1:c.915C>G
XP_016882842.1:p.Arg305=
XM_017027354.1:c.915C>G
XP_016882843.1:p.Arg305=
NM_001042545.2:c.681C>G
MANE Select
NP_001036010.1:p.Arg227=