Canonical Allele Identifier: CA12529620
Gene: GNA12 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.2830351T>C
GRCh37 chr7:g.2869985T>C
gnomAD v2:
7:2869985 T / C
gnomAD v3:
7:2830351 T / C
gnomAD v4:
chr7-2830351-T-C
Joint Max Group AF 0.29338053 (NFE)
Genomes Max Group AF 0.29338053 (NFE)
dbSNP:
1182188
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2830351T>C , CM000669.2:g.2830351T>C GRCh38
NC_000007.13:g.2869985T>C , CM000669.1:g.2869985T>C GRCh37
NC_000007.12:g.2836511T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000275364.8:c.309+13502A>G MANE Select ENSP00000275364.3:n.309+13502A>G
ENST00000275364.7:c.309+13502A>G ENSP00000275364.3:n.309+13502A>G
NM_001293092.1:c.309+13502A>G NP_001280021.1:n.309+13502A>G
NM_007353.2:c.309+13502A>G NP_031379.2:n.309+13502A>G
XM_011515288.1:c.19-35208A>G XP_011513590.1:n.19-35208A>G
XM_011515288.3:c.19-35208A>G XP_011513590.1:n.19-35208A>G
NM_007353.3:c.309+13502A>G MANE Select NP_031379.2:n.309+13502A>G
NM_001293092.2:c.309+13502A>G NP_001280021.1:n.309+13502A>G
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