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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.34517354A= , CM000671.2:g.34517354A=
GRCh38
NC_000009.11:g.34517352A= , CM000671.1:g.34517352A=
GRCh37
NC_000009.10:g.34507352A=
NCBI36
NG_008127.1:g.63542A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000242317.9:c.1888A=
MANE Select
ENSP00000242317.4:p.Asn630=
ENST00000242317.8:c.1888A=
ENSP00000242317.4:p.Asn630=
ENST00000442556.1:c.329+2615A=
ENST00000470169.5:c.676A=
ENST00000485580.1:n.464A=
ENST00000614641.4:c.1900A=
ENSP00000480538.1:p.Asn634=
NM_001281428.1:c.1900A=
NP_001268357.1:p.Asn634=
NM_012144.3:c.1888A=
NP_036276.1:p.Asn630=
XM_006716758.2:c.1357A=
XP_006716821.1:p.Asn453=
XM_011517848.1:c.1642A=
XP_011516150.1:p.Asn548=
XM_006716758.3:c.1357A=
XP_006716821.1:p.Asn453=
XM_011517848.2:c.1642A=
XP_011516150.1:p.Asn548=
XM_017014625.2:c.1630A=
XP_016870114.1:p.Asn544=
XR_002956774.1:n.1991A=
NM_012144.4:c.1888A=
MANE Select
NP_036276.1:p.Asn630=
NM_001281428.2:c.1900A=
NP_001268357.1:p.Asn634=