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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.173909799A>G , CM000663.2:g.173909799A>G
GRCh38
NC_000001.10:g.173878937A>G , CM000663.1:g.173878937A>G
GRCh37
NC_000001.9:g.172145560A>G
NCBI36
NG_012462.1:g.12580T>C , LRG_577:g.12580T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367698.4:c.906T>C
MANE Select
ENSP00000356671.3:p.Leu302=
ENST00000367698.3:c.906T>C
ENSP00000356671.3:p.Leu302=
ENST00000487183.1:n.557T>C
ENST00000617423.4:c.559+2065T>C
ENSP00000478688.1:n.559+2065T>C
NM_000488.3:c.906T>C , LRG_577t1:c.906T>C
NP_000479.1:p.Leu302=
XM_005245198.2:c.762T>C
XP_005245255.1:p.Leu254=
NM_001365052.1:c.762T>C
NP_001351981.1:p.Leu254=
NM_000488.4:c.906T>C
MANE Select
NP_000479.1:p.Leu302=
NM_001365052.2:c.762T>C
NP_001351981.1:p.Leu254=
NM_001386302.1:c.1029T>C
NP_001373231.1:p.Leu343=
NM_001386303.1:c.987T>C
NP_001373232.1:p.Leu329=
NM_001386304.1:c.885T>C
NP_001373233.1:p.Leu295=
NM_001386305.1:c.849T>C
NP_001373234.1:p.Leu283=
NM_001386306.1:c.690T>C
NP_001373235.1:p.Leu230=