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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.91220927G>T , CM000671.2:g.91220927G>T
GRCh38
NC_000009.11:g.93983209G>T , CM000671.1:g.93983209G>T
GRCh37
NC_000009.10:g.93023030G>T
NCBI36
NG_008017.1:g.145998C>A , LRG_449:g.145998C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375731.9:c.721C>A
MANE Select
ENSP00000364883.5:p.Arg241=
ENST00000303617.5:c.634C>A
ENSP00000307334.5:p.Arg212=
ENST00000375731.8:c.721C>A
ENSP00000364883.4:p.Arg241=
NM_001306190.1:c.634C>A
NP_001293119.1:p.Arg212=
NM_001698.2:c.721C>A , LRG_449t1:c.721C>A
NP_001689.1:p.Arg241=
XM_005252066.2:c.751C>A
XP_005252123.1:p.Arg251=
XM_005252067.3:c.751C>A
XP_005252124.1:p.Arg251=
XM_005252069.3:c.751C>A
XP_005252126.1:p.Arg251=
XM_005252073.2:c.259C>A
XP_005252130.1:p.Arg87=
XM_006717150.2:c.664C>A
XP_006717213.1:p.Arg222=
XM_011518801.1:c.397C>A
XP_011517103.1:p.Arg133=
XM_011518802.1:c.394C>A
XP_011517104.1:p.Arg132=
NM_001351431.1:c.394C>A
NP_001338360.1:p.Arg132=
NM_001351432.1:c.394C>A
NP_001338361.1:p.Arg132=
NM_001351433.1:c.394C>A
NP_001338362.1:p.Arg132=
XM_005252066.3:c.751C>A
XP_005252123.1:p.Arg251=
XM_005252067.4:c.751C>A
XP_005252124.1:p.Arg251=
XM_005252069.4:c.751C>A
XP_005252126.1:p.Arg251=
XM_006717150.3:c.664C>A
XP_006717213.1:p.Arg222=
XM_017014849.1:c.721C>A
XP_016870338.1:p.Arg241=
XR_001746328.2:n.946C>A
XR_001746329.2:n.898C>A
NM_001698.3:c.721C>A
MANE Select
NP_001689.1:p.Arg241=
NM_001306190.2:c.634C>A
NP_001293119.1:p.Arg212=
NM_001351431.2:c.394C>A
NP_001338360.1:p.Arg132=
NM_001351432.2:c.394C>A
NP_001338361.1:p.Arg132=
NM_001351433.2:c.394C>A
NP_001338362.1:p.Arg132=