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Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.3791993G>T , CM000678.2:g.3791993G>T
GRCh38
NC_000016.9:g.3841994G>T , CM000678.1:g.3841994G>T
GRCh37
NC_000016.8:g.3781995G>T
NCBI36
NG_009873.1:g.93128C>A
NG_009873.2:g.93721C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000262367.10:c.1318C>A
MANE Select
ENSP00000262367.5:p.Arg440=
ENST00000262367.9:c.1318C>A
ENSP00000262367.5:p.Arg440=
ENST00000382070.7:c.1216+1393C>A
ENSP00000371502.3:n.1216+1393C>A
NM_001079846.1:c.1216+1393C>A
NP_001073315.1:n.1216+1393C>A
NM_004380.2:c.1318C>A
NP_004371.2:p.Arg440=
XM_005255124.3:c.1318C>A
XP_005255181.1:p.Arg440=
XM_005255125.3:c.1318C>A
XP_005255182.1:p.Arg440=
XM_006720848.2:c.1318C>A
XP_006720911.1:p.Arg440=
XM_011522380.1:c.1264C>A
XP_011520682.1:p.Arg422=
XM_011522381.1:c.565C>A
XP_011520683.1:p.Arg189=
XM_011522382.1:c.1318C>A
XP_011520684.1:p.Arg440=
XM_005255124.4:c.1318C>A
XP_005255181.1:p.Arg440=
XM_005255125.4:c.1318C>A
XP_005255182.1:p.Arg440=
XM_006720848.3:c.1318C>A
XP_006720911.1:p.Arg440=
XM_011522381.2:c.565C>A
XP_011520683.1:p.Arg189=
XM_011522382.3:c.1318C>A
XP_011520684.1:p.Arg440=
XM_017022944.1:c.1318C>A
XP_016878433.1:p.Arg440=
NM_004380.3:c.1318C>A
MANE Select
NP_004371.2:p.Arg440=