Canonical Allele Identifier: CA13631964

Gene: SVOP

Linked Data

• dbSNP Id: rs7313861
• gnomAD v2: 12-109324609-T-C
• gnomAD v3: 12-108930833-T-C
• gnomAD v4: 12-108930833-T-C
• MyVariant Identifiers: chr12:g.109324609T>C (hg19) ; chr12:g.108930833T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.108930833T>C , CM000674.2:g.108930833T>C	GRCh38
NC_000012.11:g.109324609T>C , CM000674.1:g.109324609T>C	GRCh37
NC_000012.10:g.107848738T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610966.5:c.1048+3362A>G MANE Select	ENSP00000479104.1:n.1048+3362A>G
ENST00000610966.4:c.1048+3362A>G	ENSP00000479104.1:n.1048+3362A>G
NM_018711.4:c.1048+3362A>G	NP_061181.1:n.1048+3362A>G
NM_018711.5:c.1048+3362A>G MANE Select	NP_061181.1:n.1048+3362A>G