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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.52403834C>T , CM000665.2:g.52403834C>T
GRCh38
NC_000003.11:g.52437850C>T , CM000665.1:g.52437850C>T
GRCh37
NC_000003.10:g.52412890C>T
NCBI36
NG_031859.1:g.11160G>A , LRG_529:g.11160G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000460680.6:c.1311G>A
MANE Select
ENSP00000417132.1:p.Leu437=
ENST00000296288.9:c.1257G>A
ENSP00000296288.5:p.Leu419=
ENST00000460680.5:c.1311G>A
ENSP00000417132.1:p.Leu437=
ENST00000469613.5:c.86G>A
ENST00000490804.1:n.739G>A
NM_004656.3:c.1311G>A
NP_004647.1:p.Leu437=
XM_011534149.1:c.1311G>A
XP_011532451.1:p.Leu437=
XM_011534150.1:c.1311G>A
XP_011532452.1:p.Leu437=
XM_011534151.1:c.1257G>A
XP_011532453.1:p.Leu419=
XM_011534152.1:c.1311G>A
XP_011532454.1:p.Leu437=
XM_011534149.3:c.1311G>A
XP_011532451.1:p.Leu437=
XM_011534150.3:c.1311G>A
XP_011532452.1:p.Leu437=
XM_011534151.3:c.1257G>A
XP_011532453.1:p.Leu419=
XM_011534152.2:c.1311G>A
XP_011532454.1:p.Leu437=
XM_017007303.2:c.1257G>A
XP_016862792.1:p.Leu419=
NM_004656.4:c.1311G>A
MANE Select
NP_004647.1:p.Leu437=