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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.149680053T>C , CM000668.2:g.149680053T>C
GRCh38
NC_000006.11:g.150001189T>C , CM000668.1:g.150001189T>C
GRCh37
NC_000006.10:g.150042882T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000543571.6:c.2415A>G
MANE Select
ENSP00000437550.1:p.Ala805=
ENST00000253339.9:c.2415A>G
ENSP00000253339.5:p.Ala805=
ENST00000441107.5:c.*2102A>G
ENSP00000403815.1:n.*2102A>G
ENST00000542747.5:n.2252A>G
ENST00000543571.5:c.2415A>G
ENSP00000437550.1:p.Ala805=
NM_004690.3:c.2415A>G
NP_004681.1:p.Ala805=
NR_073033.1:n.2869A>G
XM_006715603.2:c.2415A>G
XP_006715666.1:p.Ala805=
XM_011536250.1:c.2415A>G
XP_011534552.1:p.Ala805=
XM_011536251.1:c.2100A>G
XP_011534553.1:p.Ala700=
XM_011536252.1:c.2415A>G
XP_011534554.1:p.Ala805=
NM_001350339.1:c.2100A>G
NP_001337268.1:p.Ala700=
NM_001350340.1:c.2100A>G
NP_001337269.1:p.Ala700=
NM_001350392.1:c.1575A>G
NP_001337321.1:p.Ala525=
XM_006715603.3:c.2415A>G
XP_006715666.1:p.Ala805=
XM_011536252.2:c.2415A>G
XP_011534554.1:p.Ala805=
XM_017011474.1:c.2415A>G
XP_016866963.1:p.Ala805=
XM_017011477.1:c.2415A>G
XP_016866966.1:p.Ala805=
XM_017011479.1:c.2415A>G
XP_016866968.1:p.Ala805=
XM_017011480.1:c.1575A>G
XP_016866969.1:p.Ala525=
XM_024446583.1:c.2415A>G
XP_024302351.1:p.Ala805=
NM_004690.4:c.2415A>G
MANE Select
NP_004681.1:p.Ala805=
NM_001350339.2:c.2100A>G
NP_001337268.1:p.Ala700=
NM_001350340.2:c.2100A>G
NP_001337269.1:p.Ala700=
NM_001350392.2:c.1575A>G
NP_001337321.1:p.Ala525=
NR_073033.2:n.2869A>G