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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.25557231C>A , CM000663.2:g.25557231C>A
GRCh38
NC_000001.10:g.25883722C>A , CM000663.1:g.25883722C>A
GRCh37
NC_000001.9:g.25756309C>A
NCBI36
NG_008932.1:g.18647C>A , LRG_276:g.18647C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000374338.5:c.423C>A
MANE Select
ENSP00000363458.4:p.Leu141=
ENST00000374338.4:c.423C>A
ENSP00000363458.4:p.Leu141=
ENST00000462394.1:n.171C>A
ENST00000488127.1:n.893C>A
NM_015627.2:c.423C>A , LRG_276t1:c.423C>A
NP_056442.2:p.Leu141=
XM_006710559.2:c.423C>A
XP_006710622.1:p.Leu141=
XM_006710560.2:c.423C>A
XP_006710623.1:p.Leu141=
XM_006710561.2:c.423C>A
XP_006710624.1:p.Leu141=
XM_011541209.1:c.423C>A
XP_011539511.1:p.Leu141=
XM_011541210.1:c.423C>A
XP_011539512.1:p.Leu141=
XM_011541211.1:c.423C>A
XP_011539513.1:p.Leu141=
XM_011541212.1:c.423C>A
XP_011539514.1:p.Leu141=
XR_426598.2:n.542C>A
XR_946602.1:n.542C>A
XR_946603.1:n.542C>A
XM_006710559.4:c.423C>A
XP_006710622.1:p.Leu141=
XM_006710560.4:c.423C>A
XP_006710623.1:p.Leu141=
XM_006710561.4:c.423C>A
XP_006710624.1:p.Leu141=
XM_011541209.3:c.423C>A
XP_011539511.1:p.Leu141=
XM_011541210.3:c.423C>A
XP_011539512.1:p.Leu141=
XM_011541211.3:c.423C>A
XP_011539513.1:p.Leu141=
XM_011541212.3:c.423C>A
XP_011539514.1:p.Leu141=
XM_017000994.2:c.342C>A
XP_016856483.1:p.Leu114=
XM_017000995.2:c.423C>A
XP_016856484.1:p.Leu141=
XM_024446315.1:c.288C>A
XP_024302083.1:p.Leu96=
XR_001737112.2:n.493C>A
XR_001737113.2:n.493C>A
XR_002956258.1:n.493C>A
XR_426598.4:n.493C>A
XR_946602.3:n.493C>A
XR_946603.3:n.493C>A
NM_015627.3:c.423C>A
MANE Select
NP_056442.2:p.Leu141=