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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.243426460G= , CM000663.2:g.243426460G=
GRCh38
NC_000001.10:g.243589762G= , CM000663.1:g.243589762G=
GRCh37
NC_000001.9:g.241656385G=
NCBI36
NG_027811.1:g.175456G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000366541.8:c.1887G=
MANE Select
ENSP00000355499.3:p.Arg629=
ENST00000366541.7:c.1887G=
ENSP00000355499.3:p.Arg629=
ENST00000435549.1:c.990G=
ENSP00000410200.1:p.Arg330=
ENST00000463042.1:n.94G=
NM_006642.3:c.1887G=
NP_006633.1:p.Arg629=
XM_005273013.3:c.1758G=
XP_005273070.1:p.Arg586=
XM_005273018.1:c.1464G=
XP_005273075.1:p.Arg488=
XM_005273021.3:c.984G=
XP_005273078.1:p.Arg328=
XM_005273022.2:c.966G=
XP_005273079.1:p.Arg322=
XM_006711727.2:c.1917G=
XP_006711790.1:p.Arg639=
XM_006711728.2:c.1788G=
XP_006711791.1:p.Arg596=
XM_006711729.2:c.1728G=
XP_006711792.1:p.Arg576=
XM_011544021.1:c.2013G=
XP_011542323.1:p.Arg671=
XM_011544022.1:c.1983G=
XP_011542324.1:p.Arg661=
XM_011544023.1:c.2013G=
XP_011542325.1:p.Arg671=
XM_011544024.1:c.2013G=
XP_011542326.1:p.Arg671=
XM_011544025.1:c.1824G=
XP_011542327.1:p.Arg608=
XM_011544026.1:c.1776G=
XP_011542328.1:p.Arg592=
XM_011544027.1:c.1599G=
XP_011542329.1:p.Arg533=
XM_011544028.1:c.1551G=
XP_011542330.1:p.Arg517=
XM_011544030.1:c.942G=
XP_011542332.1:p.Arg314=
XR_949128.1:n.2037G=
NM_001350246.1:c.984G=
NP_001337175.1:p.Arg328=
NM_001350247.1:c.984G=
NP_001337176.1:p.Arg328=
NM_001350248.1:c.1983G=
NP_001337177.1:p.Arg661=
NM_001350249.1:c.1593G=
NP_001337178.1:p.Arg531=
NM_001350251.1:c.984G=
NP_001337180.1:p.Arg328=
NM_006642.4:c.1887G=
NP_006633.1:p.Arg629=
XM_005273013.5:c.1758G=
XP_005273070.1:p.Arg586=
XM_005273018.2:c.1464G=
XP_005273075.1:p.Arg488=
XM_005273022.4:c.966G=
XP_005273079.1:p.Arg322=
XM_011544026.3:c.1776G=
XP_011542328.1:p.Arg592=
XM_011544028.3:c.1551G=
XP_011542330.1:p.Arg517=
XM_011544030.3:c.942G=
XP_011542332.1:p.Arg314=
XM_017000104.2:c.1758G=
XP_016855593.1:p.Arg586=
XM_017000105.2:c.1650G=
XP_016855594.1:p.Arg550=
XM_024452537.1:c.1689G=
XP_024308305.1:p.Arg563=
XM_024452539.1:c.1689G=
XP_024308307.1:p.Arg563=
XM_024452540.1:c.1689G=
XP_024308308.1:p.Arg563=
XM_024452547.1:c.1593G=
XP_024308315.1:p.Arg531=
XM_024452548.1:c.1689G=
XP_024308316.1:p.Arg563=
XM_024452549.1:c.1356G=
XP_024308317.1:p.Arg452=
XR_002958955.1:n.1929G=
XR_002958956.1:n.1929G=
XR_002958965.1:n.1820G=
NM_006642.5:c.1887G=
MANE Select
NP_006633.1:p.Arg629=
NM_001350246.2:c.984G=
NP_001337175.1:p.Arg328=
NM_001350247.2:c.984G=
NP_001337176.1:p.Arg328=
NM_001350248.2:c.1983G=
NP_001337177.1:p.Arg661=
NM_001350249.2:c.1593G=
NP_001337178.1:p.Arg531=
NM_001350251.2:c.984G=
NP_001337180.1:p.Arg328=