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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.107245581T>G , CM000668.2:g.107245581T>G
GRCh38
NC_000006.11:g.107566785T>G , CM000668.1:g.107566785T>G
GRCh37
NC_000006.10:g.107673478T>G
NCBI36
NG_013033.1:g.218995A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000369037.9:c.669A>C
MANE Select
ENSP00000358033.4:p.Val223=
ENST00000369037.8:c.669A>C
ENSP00000358033.4:p.Val223=
NM_020381.3:c.669A>C
NP_065114.3:p.Val223=
XM_011535956.1:c.669A>C
XP_011534258.1:p.Val223=
XM_011535957.1:c.669A>C
XP_011534259.1:p.Val223=
XM_011535958.1:c.534A>C
XP_011534260.1:p.Val178=
XM_011535959.1:c.669A>C
XP_011534261.1:p.Val223=
XM_011535960.1:c.261A>C
XP_011534262.1:p.Val87=
XM_011535961.1:c.669A>C
XP_011534263.1:p.Val223=
XM_011535962.1:c.261A>C
XP_011534264.1:p.Val87=
XM_011535956.3:c.669A>C
XP_011534258.1:p.Val223=
XM_011535957.3:c.669A>C
XP_011534259.1:p.Val223=
XM_011535958.3:c.534A>C
XP_011534260.1:p.Val178=
XM_011535959.3:c.669A>C
XP_011534261.1:p.Val223=
XM_011535960.3:c.261A>C
XP_011534262.1:p.Val87=
XM_011535961.3:c.669A>C
XP_011534263.1:p.Val223=
XM_011535962.2:c.261A>C
XP_011534264.1:p.Val87=
XM_017011082.2:c.669A>C
XP_016866571.1:p.Val223=
NM_020381.4:c.669A>C
MANE Select
NP_065114.3:p.Val223=