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Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.6495740C>G , CM000681.2:g.6495740C>G
GRCh38
NC_000019.9:g.6495751C>G , CM000681.1:g.6495751C>G
GRCh37
NC_000019.8:g.6446751C>G
NCBI36
NG_033896.1:g.12109G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264071.7:c.759G>C
MANE Select
ENSP00000264071.1:p.Leu253=
ENST00000264071.6:c.759G>C
ENSP00000264071.1:p.Leu253=
ENST00000540257.5:c.759G>C
ENSP00000443590.1:p.Leu253=
ENST00000594276.5:c.447G>C
ENSP00000472481.1:p.Leu149=
NM_001289123.1:c.912G>C
NP_001276052.1:p.Leu304=
NM_001289127.1:c.894G>C
NP_001276056.1:p.Leu298=
NM_001289129.1:c.759G>C
NP_001276058.1:p.Leu253=
NM_001289130.1:c.543G>C
NP_001276059.1:p.Leu181=
NM_001289131.1:c.543G>C
NP_001276060.1:p.Leu181=
NM_006087.3:c.759G>C
NP_006078.2:p.Leu253=
NM_006087.4:c.759G>C
MANE Select
NP_006078.2:p.Leu253=
NM_001289123.2:c.912G>C
NP_001276052.1:p.Leu304=
NM_001289127.2:c.894G>C
NP_001276056.1:p.Leu298=
NM_001289129.2:c.759G>C
NP_001276058.1:p.Leu253=
NM_001289130.2:c.543G>C
NP_001276059.1:p.Leu181=
NM_001289131.2:c.543G>C
NP_001276060.1:p.Leu181=