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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.154569611A>G , CM000666.2:g.154569611A>G
GRCh38
NC_000004.11:g.155490763A>G , CM000666.1:g.155490763A>G
GRCh37
NC_000004.10:g.155710213A>G
NCBI36
NG_008833.1:g.11632A>G , LRG_558:g.11632A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000302068.9:c.1056A>G
MANE Select
ENSP00000306099.4:p.Val352=
ENST00000302068.8:c.1056A>G
ENSP00000306099.4:p.Val352=
ENST00000502545.5:n.939+304A>G
ENST00000509493.1:c.399A>G
ENSP00000426757.1:p.Val133=
NM_001184741.1:c.879A>G
NP_001171670.1:p.Val293=
NM_005141.4:c.1056A>G , LRG_558t1:c.1056A>G
NP_005132.2:p.Val352=
NM_001382759.1:c.924A>G
NP_001369688.1:p.Val308=
NM_001382760.1:c.1056A>G
NP_001369689.1:p.Val352=
NM_001382761.1:c.1056A>G
NP_001369690.1:p.Val352=
NM_001382762.1:c.756A>G
NP_001369691.1:p.Val252=
NM_001382763.1:c.1047A>G
NP_001369692.1:p.Val349=
NM_001382764.1:c.1056A>G
NP_001369693.1:p.Val352=
NM_001382765.1:c.1056A>G
NP_001369694.1:p.Val352=
NM_005141.5:c.1056A>G
MANE Select
NP_005132.2:p.Val352=