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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.243426429C= , CM000663.2:g.243426429C=
GRCh38
NC_000001.10:g.243589731C= , CM000663.1:g.243589731C=
GRCh37
NC_000001.9:g.241656354C=
NCBI36
NG_027811.1:g.175425C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000366541.8:c.1856C=
MANE Select
ENSP00000355499.3:p.Ser619=
ENST00000366541.7:c.1856C=
ENSP00000355499.3:p.Ser619=
ENST00000435549.1:c.959C=
ENSP00000410200.1:p.Ser320=
ENST00000463042.1:n.63C=
NM_006642.3:c.1856C=
NP_006633.1:p.Ser619=
XM_005273013.3:c.1727C=
XP_005273070.1:p.Ser576=
XM_005273018.1:c.1433C=
XP_005273075.1:p.Ser478=
XM_005273021.3:c.953C=
XP_005273078.1:p.Ser318=
XM_005273022.2:c.935C=
XP_005273079.1:p.Ser312=
XM_006711727.2:c.1886C=
XP_006711790.1:p.Ser629=
XM_006711728.2:c.1757C=
XP_006711791.1:p.Ser586=
XM_006711729.2:c.1697C=
XP_006711792.1:p.Ser566=
XM_011544021.1:c.1982C=
XP_011542323.1:p.Ser661=
XM_011544022.1:c.1952C=
XP_011542324.1:p.Ser651=
XM_011544023.1:c.1982C=
XP_011542325.1:p.Ser661=
XM_011544024.1:c.1982C=
XP_011542326.1:p.Ser661=
XM_011544025.1:c.1793C=
XP_011542327.1:p.Ser598=
XM_011544026.1:c.1745C=
XP_011542328.1:p.Ser582=
XM_011544027.1:c.1568C=
XP_011542329.1:p.Ser523=
XM_011544028.1:c.1520C=
XP_011542330.1:p.Ser507=
XM_011544030.1:c.911C=
XP_011542332.1:p.Ser304=
XR_949128.1:n.2006C=
NM_001350246.1:c.953C=
NP_001337175.1:p.Ser318=
NM_001350247.1:c.953C=
NP_001337176.1:p.Ser318=
NM_001350248.1:c.1952C=
NP_001337177.1:p.Ser651=
NM_001350249.1:c.1562C=
NP_001337178.1:p.Ser521=
NM_001350251.1:c.953C=
NP_001337180.1:p.Ser318=
NM_006642.4:c.1856C=
NP_006633.1:p.Ser619=
XM_005273013.5:c.1727C=
XP_005273070.1:p.Ser576=
XM_005273018.2:c.1433C=
XP_005273075.1:p.Ser478=
XM_005273022.4:c.935C=
XP_005273079.1:p.Ser312=
XM_011544026.3:c.1745C=
XP_011542328.1:p.Ser582=
XM_011544028.3:c.1520C=
XP_011542330.1:p.Ser507=
XM_011544030.3:c.911C=
XP_011542332.1:p.Ser304=
XM_017000104.2:c.1727C=
XP_016855593.1:p.Ser576=
XM_017000105.2:c.1619C=
XP_016855594.1:p.Ser540=
XM_024452537.1:c.1658C=
XP_024308305.1:p.Ser553=
XM_024452539.1:c.1658C=
XP_024308307.1:p.Ser553=
XM_024452540.1:c.1658C=
XP_024308308.1:p.Ser553=
XM_024452547.1:c.1562C=
XP_024308315.1:p.Ser521=
XM_024452548.1:c.1658C=
XP_024308316.1:p.Ser553=
XM_024452549.1:c.1325C=
XP_024308317.1:p.Ser442=
XR_002958955.1:n.1898C=
XR_002958956.1:n.1898C=
XR_002958965.1:n.1789C=
NM_006642.5:c.1856C=
MANE Select
NP_006633.1:p.Ser619=
NM_001350246.2:c.953C=
NP_001337175.1:p.Ser318=
NM_001350247.2:c.953C=
NP_001337176.1:p.Ser318=
NM_001350248.2:c.1952C=
NP_001337177.1:p.Ser651=
NM_001350249.2:c.1562C=
NP_001337178.1:p.Ser521=
NM_001350251.2:c.953C=
NP_001337180.1:p.Ser318=