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Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.80026712G>C , CM000685.2:g.80026712G>C
GRCh38
NC_000023.10:g.79282211G>C , CM000685.1:g.79282211G>C
GRCh37
NC_000023.9:g.79168867G>C
NCBI36
NG_008998.1:g.16957G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000373296.8:c.642G>C
MANE Select
ENSP00000362393.3:p.Leu214=
ENST00000373294.8:c.642G>C
ENSP00000362390.5:p.Leu214=
ENST00000373296.7:c.642G>C
ENSP00000362393.3:p.Leu214=
ENST00000626498.2:c.*254G>C
ENSP00000487527.1:n.*254G>C
ENST00000626877.1:n.521G>C
NM_001109878.1:c.642G>C
NP_001103348.1:p.Leu214=
NM_001109879.1:c.282G>C
NP_001103349.1:p.Leu94=
NM_001303475.1:c.282G>C
NP_001290404.1:p.Leu94=
NM_016954.2:c.642G>C
NP_058650.1:p.Leu214=
XM_005262136.2:c.645G>C
XP_005262193.1:p.Leu215=
XM_006724657.2:c.645G>C
XP_006724720.1:p.Leu215=
XM_011530972.1:c.282G>C
XP_011529274.1:p.Leu94=
NM_001109878.2:c.642G>C
MANE Select
NP_001103348.1:p.Leu214=
NM_001109879.2:c.282G>C
NP_001103349.1:p.Leu94=