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Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.6495755G>T , CM000681.2:g.6495755G>T
GRCh38
NC_000019.9:g.6495766G>T , CM000681.1:g.6495766G>T
GRCh37
NC_000019.8:g.6446766G>T
NCBI36
NG_033896.1:g.12094C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264071.7:c.744C>A
MANE Select
ENSP00000264071.1:p.Ala248=
ENST00000264071.6:c.744C>A
ENSP00000264071.1:p.Ala248=
ENST00000540257.5:c.744C>A
ENSP00000443590.1:p.Ala248=
ENST00000594276.5:c.432C>A
ENSP00000472481.1:p.Ala144=
NM_001289123.1:c.897C>A
NP_001276052.1:p.Ala299=
NM_001289127.1:c.879C>A
NP_001276056.1:p.Ala293=
NM_001289129.1:c.744C>A
NP_001276058.1:p.Ala248=
NM_001289130.1:c.528C>A
NP_001276059.1:p.Ala176=
NM_001289131.1:c.528C>A
NP_001276060.1:p.Ala176=
NM_006087.3:c.744C>A
NP_006078.2:p.Ala248=
NM_006087.4:c.744C>A
MANE Select
NP_006078.2:p.Ala248=
NM_001289123.2:c.897C>A
NP_001276052.1:p.Ala299=
NM_001289127.2:c.879C>A
NP_001276056.1:p.Ala293=
NM_001289129.2:c.744C>A
NP_001276058.1:p.Ala248=
NM_001289130.2:c.528C>A
NP_001276059.1:p.Ala176=
NM_001289131.2:c.528C>A
NP_001276060.1:p.Ala176=