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Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.13608684C>T , CM000674.2:g.13608684C>T
GRCh38
NC_000012.11:g.13761618C>T , CM000674.1:g.13761618C>T
GRCh37
NC_000012.10:g.13652885C>T
NCBI36
NG_031854.1:g.376405G>A
NG_031854.2:g.378329G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000609686.4:c.1929G>A
MANE Select
ENSP00000477455.1:p.Leu643=
ENST00000628166.2:n.189G>A
ENST00000609686.3:c.1929G>A
ENSP00000477455.1:p.Leu643=
ENST00000628166.1:n.189G>A
NM_000834.3:c.1929G>A
NP_000825.2:p.Leu643=
XM_011520628.1:c.1929G>A
XP_011518930.1:p.Leu643=
XM_011520629.1:c.1929G>A
XP_011518931.1:p.Leu643=
XM_011520630.1:c.1929G>A
XP_011518932.1:p.Leu643=
XR_931372.1:n.179-6414C>T
XR_931373.1:n.245C>T
NM_000834.4:c.1929G>A
NP_000825.2:p.Leu643=
XM_011520628.2:c.1929G>A
XP_011518930.1:p.Leu643=
XM_011520629.2:c.1929G>A
XP_011518931.1:p.Leu643=
XM_017019219.2:c.1929G>A
XP_016874708.1:p.Leu643=
XR_001749013.1:n.384C>T
XR_931372.2:n.316-6414C>T
XR_931373.2:n.384C>T
NM_000834.5:c.1929G>A
MANE Select
NP_000825.2:p.Leu643=