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Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.13283686T= , CM000672.2:g.13283686T=
GRCh38
NC_000010.10:g.13325686T= , CM000672.1:g.13325686T=
GRCh37
NC_000010.9:g.13365692T=
NCBI36
NG_012862.1:g.21445A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000263038.9:c.828+4A=
MANE Select
ENSP00000263038.4:n.828+4A=
ENST00000263038.8:c.828+4A=
ENSP00000263038.4:n.828+4A=
ENST00000396913.6:c.528+4A=
ENSP00000380121.2:n.528+4A=
ENST00000396920.7:c.777+4A=
ENSP00000380126.3:n.777+4A=
NM_001037537.1:c.528+4A=
NP_001032626.1:n.528+4A=
NM_006214.3:c.828+4A=
NP_006205.1:n.828+4A=
XM_005252469.2:c.609+4A=
XP_005252526.1:n.609+4A=
NM_001323080.1:c.528+4A=
NP_001310009.1:n.528+4A=
NM_001323082.1:c.834+4A=
NP_001310011.1:n.834+4A=
NM_001323083.1:c.564+4A=
NP_001310012.1:n.564+4A=
NM_001323084.1:c.534+4A=
NP_001310013.1:n.534+4A=
NM_006214.4:c.828+4A=
MANE Select
NP_006205.1:n.828+4A=
NM_001037537.2:c.528+4A=
NP_001032626.1:n.528+4A=
NM_001323080.2:c.528+4A=
NP_001310009.1:n.528+4A=
NM_001323082.2:c.834+4A=
NP_001310011.1:n.834+4A=
NM_001323083.2:c.564+4A=
NP_001310012.1:n.564+4A=
NM_001323084.2:c.534+4A=
NP_001310013.1:n.534+4A=