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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.77942807T= , CM000663.2:g.77942807T=
GRCh38
NC_000001.10:g.78408492T= , CM000663.1:g.78408492T=
GRCh37
NC_000001.9:g.78181080T=
NCBI36
NG_016625.1:g.59293T= , LRG_442:g.59293T=
NG_033243.2:g.41287A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000334785.12:c.2006T=
MANE Select
ENSP00000333938.7:p.Leu669=
ENST00000330010.12:c.1814T=
ENSP00000327363.8:p.Leu605=
ENST00000334785.11:c.2006T=
ENSP00000333938.7:p.Leu669=
ENST00000342754.5:c.1705T=
ENST00000480732.2:n.1580T=
NM_001172309.1:c.1814T=
NP_001165780.1:p.Leu605=
NM_144573.3:c.2006T= , LRG_442t1:c.2006T=
NP_653174.3:p.Leu669=
XM_005271322.2:c.2006T=
XP_005271379.1:p.Leu669=
XM_005271323.2:c.1964T=
XP_005271380.1:p.Leu655=
XM_005271324.3:c.1814T=
XP_005271381.1:p.Leu605=
XM_005271325.2:c.1784T=
XP_005271382.1:p.Leu595=
XM_005271326.2:c.1772T=
XP_005271383.1:p.Leu591=
XM_005271327.2:c.1589T=
XP_005271384.1:p.Leu530=
XM_005271322.4:c.2006T=
XP_005271379.1:p.Leu669=
XM_005271323.4:c.1964T=
XP_005271380.1:p.Leu655=
XM_005271324.5:c.1814T=
XP_005271381.1:p.Leu605=
XM_005271325.4:c.1784T=
XP_005271382.1:p.Leu595=
XM_005271326.4:c.1772T=
XP_005271383.1:p.Leu591=
XM_005271327.4:c.1589T=
XP_005271384.1:p.Leu530=
NM_001172309.2:c.1814T=
NP_001165780.1:p.Leu605=
NM_144573.4:c.2006T=
MANE Select
NP_653174.3:p.Leu669=