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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.91220904G>A , CM000671.2:g.91220904G>A
GRCh38
NC_000009.11:g.93983186G>A , CM000671.1:g.93983186G>A
GRCh37
NC_000009.10:g.93023007G>A
NCBI36
NG_008017.1:g.146021C>T , LRG_449:g.146021C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375731.9:c.744C>T
MANE Select
ENSP00000364883.5:p.Ala248=
ENST00000303617.5:c.657C>T
ENSP00000307334.5:p.Ala219=
ENST00000375731.8:c.744C>T
ENSP00000364883.4:p.Ala248=
ENST00000473695.1:n.16C>T
NM_001306190.1:c.657C>T
NP_001293119.1:p.Ala219=
NM_001698.2:c.744C>T , LRG_449t1:c.744C>T
NP_001689.1:p.Ala248=
XM_005252066.2:c.774C>T
XP_005252123.1:p.Ala258=
XM_005252067.3:c.774C>T
XP_005252124.1:p.Ala258=
XM_005252069.3:c.774C>T
XP_005252126.1:p.Ala258=
XM_005252073.2:c.282C>T
XP_005252130.1:p.Ala94=
XM_006717150.2:c.687C>T
XP_006717213.1:p.Ala229=
XM_011518801.1:c.420C>T
XP_011517103.1:p.Ala140=
XM_011518802.1:c.417C>T
XP_011517104.1:p.Ala139=
NM_001351431.1:c.417C>T
NP_001338360.1:p.Ala139=
NM_001351432.1:c.417C>T
NP_001338361.1:p.Ala139=
NM_001351433.1:c.417C>T
NP_001338362.1:p.Ala139=
XM_005252066.3:c.774C>T
XP_005252123.1:p.Ala258=
XM_005252067.4:c.774C>T
XP_005252124.1:p.Ala258=
XM_005252069.4:c.774C>T
XP_005252126.1:p.Ala258=
XM_006717150.3:c.687C>T
XP_006717213.1:p.Ala229=
XM_017014849.1:c.744C>T
XP_016870338.1:p.Ala248=
XR_001746328.2:n.969C>T
XR_001746329.2:n.921C>T
NM_001698.3:c.744C>T
MANE Select
NP_001689.1:p.Ala248=
NM_001306190.2:c.657C>T
NP_001293119.1:p.Ala219=
NM_001351431.2:c.417C>T
NP_001338360.1:p.Ala139=
NM_001351432.2:c.417C>T
NP_001338361.1:p.Ala139=
NM_001351433.2:c.417C>T
NP_001338362.1:p.Ala139=