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Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.11886019T= , CM000674.2:g.11886019T=
GRCh38
NC_000012.11:g.12038953T= , CM000674.1:g.12038953T=
GRCh37
NC_000012.10:g.11930220T=
NCBI36
NG_011443.1:g.241166T= , LRG_609:g.241166T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000396373.9:c.1246T=
MANE Select
ENSP00000379658.3:p.Leu416=
ENST00000266427.3:c.83T=
ENST00000396373.8:c.1246T=
ENSP00000379658.3:p.Leu416=
NM_001987.4:c.1246T= , LRG_609t1:c.1246T=
NP_001978.1:p.Leu416=
XM_011520607.1:c.1243T=
XP_011518909.1:p.Leu415=
XM_011520608.1:c.1219T=
XP_011518910.1:p.Leu407=
XM_011520609.1:c.982T=
XP_011518911.1:p.Leu328=
XM_011520610.1:c.982T=
XP_011518912.1:p.Leu328=
XM_011520611.1:c.982T=
XP_011518913.1:p.Leu328=
XM_011520612.1:c.625T=
XP_011518914.1:p.Leu209=
XM_011520607.2:c.1243T=
XP_011518909.1:p.Leu415=
XM_011520608.2:c.1219T=
XP_011518910.1:p.Leu407=
XM_011520609.2:c.982T=
XP_011518911.1:p.Leu328=
XM_011520611.2:c.982T=
XP_011518913.1:p.Leu328=
XM_011520612.2:c.625T=
XP_011518914.1:p.Leu209=
XM_017018990.1:c.1111T=
XP_016874479.1:p.Leu371=
XM_017018991.1:c.982T=
XP_016874480.1:p.Leu328=
NM_001987.5:c.1246T=
MANE Select
NP_001978.1:p.Leu416=