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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.91220988C>G , CM000671.2:g.91220988C>G
GRCh38
NC_000009.11:g.93983270C>G , CM000671.1:g.93983270C>G
GRCh37
NC_000009.10:g.93023091C>G
NCBI36
NG_008017.1:g.145937G>C , LRG_449:g.145937G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375731.9:c.660G>C
MANE Select
ENSP00000364883.5:p.Gly220=
ENST00000303617.5:c.573G>C
ENSP00000307334.5:p.Gly191=
ENST00000375731.8:c.660G>C
ENSP00000364883.4:p.Gly220=
NM_001306190.1:c.573G>C
NP_001293119.1:p.Gly191=
NM_001698.2:c.660G>C , LRG_449t1:c.660G>C
NP_001689.1:p.Gly220=
XM_005252066.2:c.690G>C
XP_005252123.1:p.Gly230=
XM_005252067.3:c.690G>C
XP_005252124.1:p.Gly230=
XM_005252069.3:c.690G>C
XP_005252126.1:p.Gly230=
XM_005252073.2:c.198G>C
XP_005252130.1:p.Gly66=
XM_006717150.2:c.603G>C
XP_006717213.1:p.Gly201=
XM_011518801.1:c.336G>C
XP_011517103.1:p.Gly112=
XM_011518802.1:c.333G>C
XP_011517104.1:p.Gly111=
NM_001351431.1:c.333G>C
NP_001338360.1:p.Gly111=
NM_001351432.1:c.333G>C
NP_001338361.1:p.Gly111=
NM_001351433.1:c.333G>C
NP_001338362.1:p.Gly111=
XM_005252066.3:c.690G>C
XP_005252123.1:p.Gly230=
XM_005252067.4:c.690G>C
XP_005252124.1:p.Gly230=
XM_005252069.4:c.690G>C
XP_005252126.1:p.Gly230=
XM_006717150.3:c.603G>C
XP_006717213.1:p.Gly201=
XM_017014849.1:c.660G>C
XP_016870338.1:p.Gly220=
XR_001746328.2:n.885G>C
XR_001746329.2:n.837G>C
NM_001698.3:c.660G>C
MANE Select
NP_001689.1:p.Gly220=
NM_001306190.2:c.573G>C
NP_001293119.1:p.Gly191=
NM_001351431.2:c.333G>C
NP_001338360.1:p.Gly111=
NM_001351432.2:c.333G>C
NP_001338361.1:p.Gly111=
NM_001351433.2:c.333G>C
NP_001338362.1:p.Gly111=