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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.149182102T>C , CM000665.2:g.149182102T>C
GRCh38
NC_000003.11:g.148899889T>C , CM000665.1:g.148899889T>C
GRCh37
NC_000003.10:g.150382579T>C
NCBI36
NG_011800.1:g.44944A>G
NG_011800.2:g.44944A>G
NG_011800.3:g.44944A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264613.11:c.2457A>G
MANE Select
ENSP00000264613.6:p.Lys819=
ENST00000264613.10:c.2457A>G
ENSP00000264613.6:p.Lys819=
ENST00000481169.5:c.2244A>G
ENSP00000418773.1:p.Lys748=
ENST00000490639.5:n.2489A>G
ENST00000494544.1:c.1806A>G
ENSP00000420545.1:p.Lys602=
NM_000096.3:c.2457A>G
NP_000087.1:p.Lys819=
NR_046371.1:n.2497A>G
XM_006713499.2:c.2457A>G
XP_006713562.1:p.Lys819=
XM_006713500.2:c.2457A>G
XP_006713563.1:p.Lys819=
XM_006713501.2:c.2457A>G
XP_006713564.1:p.Lys819=
XM_006713502.2:c.2457A>G
XP_006713565.1:p.Lys819=
XM_011512435.1:c.2457A>G
XP_011510737.1:p.Lys819=
XR_427361.2:n.2715A>G
XM_006713499.3:c.2457A>G
XP_006713562.1:p.Lys819=
XM_006713500.4:c.2457A>G
XP_006713563.1:p.Lys819=
XM_006713501.3:c.2457A>G
XP_006713564.1:p.Lys819=
XM_011512435.2:c.2457A>G
XP_011510737.1:p.Lys819=
XM_017005734.2:c.2457A>G
XP_016861223.1:p.Lys819=
XM_017005735.2:c.2457A>G
XP_016861224.1:p.Lys819=
XR_427361.3:n.2673A>G
NM_000096.4:c.2457A>G
MANE Select
NP_000087.2:p.Lys819=
NR_046371.2:n.2281A>G