Canonical Allele Identifier: CA116887498
Gene: ADAMTS12 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.33658242T>C
GRCh37 chr5:g.33658347T>C
Revel Score:
ENST00000504830 (MANE Select) 0.215
ENST00000352040 0.215
gnomAD v2:
5:33658347 T / C
gnomAD v3:
5:33658242 T / C
gnomAD v4:
chr5-33658242-T-C
Joint Max Group AF 0.00002475 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00002286 (NFE)
ClinVar Allele:
2200445
ClinVar RCV:
RCV004076759
ClinVar Variation:
2208351
dbSNP:
941207284
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33658242T>C , CM000667.2:g.33658242T>C GRCh38
NC_000005.9:g.33658347T>C , CM000667.1:g.33658347T>C GRCh37
NC_000005.8:g.33694104T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000504830.6:c.1132A>G MANE Select ENSP00000422554.1:p.Ile378Val
ENST00000352040.7:c.1132A>G ENSP00000344847.3:p.Ile378Val
ENST00000504582.5:n.812A>G
ENST00000504830.5:c.1132A>G ENSP00000422554.1:p.Ile378Val
NM_030955.2:c.1132A>G NP_112217.2:p.Ile378Val
XM_011514145.1:c.361A>G XP_011512447.1:p.Ile121Val
XM_011514146.1:c.1132A>G XP_011512448.1:p.Ile378Val
XM_011514148.1:c.1132A>G XP_011512450.1:p.Ile378Val
XM_011514149.1:c.1132A>G XP_011512451.1:p.Ile378Val
NM_001324512.1:c.1132A>G NP_001311441.1:p.Ile378Val
NM_030955.3:c.1132A>G NP_112217.2:p.Ile378Val
XM_017009905.1:c.1132A>G XP_016865394.1:p.Ile378Val
XM_017009906.1:c.640A>G XP_016865395.1:p.Ile214Val
NM_030955.4:c.1132A>G MANE Select NP_112217.2:p.Ile378Val
NM_001324512.2:c.1132A>G NP_001311441.1:p.Ile378Val
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