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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.150346449C>A , CM000663.2:g.150346449C>A
GRCh38
NC_000001.10:g.150318925C>A , CM000663.1:g.150318925C>A
GRCh37
NC_000001.9:g.148585549C>A
NCBI36
NG_008245.1:g.29998C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000324862.7:c.1801C>A
MANE Select
ENSP00000315379.6:p.Arg601=
ENST00000324862.6:c.1801C>A
ENSP00000315379.6:p.Arg601=
ENST00000467329.5:n.2128C>A
ENST00000476970.1:n.910C>A
NM_004698.2:c.1801C>A
NP_004689.1:p.Arg601=
XM_011510128.1:c.1801C>A
XP_011508430.1:p.Arg601=
XM_011510129.1:c.1396C>A
XP_011508431.1:p.Arg466=
XM_011510130.1:c.1369C>A
XP_011508432.1:p.Arg457=
XR_241103.1:n.1784C>A
XR_921997.1:n.1784C>A
XR_921998.1:n.1898C>A
NM_001350529.1:c.1396C>A
NP_001337458.1:p.Arg466=
NM_004698.3:c.1801C>A
NP_004689.1:p.Arg601=
NR_146766.1:n.2032C>A
NR_146767.1:n.2128C>A
NR_146768.1:n.1974C>A
NR_146769.1:n.2027C>A
XM_011510130.3:c.1369C>A
XP_011508432.1:p.Arg457=
XM_017002790.1:c.1369C>A
XP_016858279.1:p.Arg457=
XR_001737536.2:n.1834C>A
XR_001737537.2:n.1948C>A
XR_001737540.2:n.2705C>A
XR_001737541.2:n.1728C>A
XR_002958009.1:n.2458C>A
XR_002958010.1:n.3694C>A
XR_002958012.1:n.1890C>A
XR_241103.3:n.1776C>A
XR_921997.3:n.1776C>A
XR_921998.3:n.1890C>A
NM_004698.4:c.1801C>A
MANE Select
NP_004689.1:p.Arg601=