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Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.1780644A= , CM000674.2:g.1780644A=
GRCh38
NC_000012.11:g.1889810A= , CM000674.1:g.1889810A=
GRCh37
NC_000012.10:g.1760071A=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000357103.5:c.650+7A=
MANE Select
ENSP00000349616.4:n.650+7A=
ENST00000357103.4:c.650+7A=
ENSP00000349616.4:n.650+7A=
ENST00000537190.1:n.490+7A=
NM_024551.2:c.650+7A=
NP_078827.2:n.650+7A=
XM_005253789.1:c.650+7A=
XP_005253846.1:n.650+7A=
XM_006719018.1:c.650+7A=
XP_006719081.1:n.650+7A=
XM_011521024.1:c.650+7A=
XP_011519326.1:n.650+7A=
XM_011521025.1:c.463+2619A=
XP_011519327.1:n.463+2619A=
XM_005253789.2:c.650+7A=
XP_005253846.1:n.650+7A=
XM_006719018.2:c.650+7A=
XP_006719081.1:n.650+7A=
XM_011521024.2:c.650+7A=
XP_011519326.1:n.650+7A=
NM_024551.3:c.650+7A=
MANE Select
NP_078827.2:n.650+7A=
NM_001375363.1:c.650+7A=
NP_001362292.1:n.650+7A=
NM_001375364.1:c.650+7A=
NP_001362293.1:n.650+7A=
NM_001375365.1:c.650+7A=
NP_001362294.1:n.650+7A=