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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.101128435G>C , CM000669.2:g.101128435G>C
GRCh38
NC_000007.13:g.100771716G>C , CM000669.1:g.100771716G>C
GRCh37
NC_000007.12:g.100558436G>C
NCBI36
NG_013213.1:g.6338G>C , LRG_597:g.6338G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000223095.5:c.42G>C
MANE Select
ENSP00000223095.4:p.Leu14=
ENST00000223095.4:c.42G>C
ENSP00000223095.4:p.Leu14=
NM_000602.4:c.42G>C , LRG_597t1:c.42G>C
NP_000593.1:p.Leu14=
NM_000602.5:c.42G>C
MANE Select
NP_000593.1:p.Leu14=
NM_001386456.1:c.-32-179G>C
NP_001373385.1:n.-32-179G>C
NM_001386457.1:c.42G>C
NP_001373386.1:p.Leu14=
NM_001386458.1:c.42G>C
NP_001373387.1:p.Leu14=
NM_001386459.1:c.42G>C
NP_001373388.1:p.Leu14=
NM_001386460.1:c.42G>C
NP_001373389.1:p.Leu14=
NM_001386461.1:c.42G>C
NP_001373390.1:p.Leu14=
NM_001386462.1:c.-69-91G>C
NP_001373391.1:n.-69-91G>C
NM_001386463.1:c.36G>C
NP_001373392.1:p.Leu12=
NM_001386464.1:c.42G>C
NP_001373393.1:p.Leu14=
NM_001386465.1:c.42G>C
NP_001373394.1:p.Leu14=
NM_001386466.1:c.42G>C
NP_001373395.1:p.Leu14=