Canonical Allele Identifier: CA3069566
Gene: BBS12 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.122743992T>C
GRCh37 chr4:g.123665147T>C
gnomAD v2:
4:123665147 T / C
gnomAD v3:
4:122743992 T / C
gnomAD v4:
chr4-122743992-T-C
Joint Max Group AF 0.00032406 (MID)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00014138 (MID)
ClinVar RCV:
RCV000360072
RCV001094787
ClinVar Variation:
347506
dbSNP:
145847043
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122743992T>C , CM000666.2:g.122743992T>C GRCh38
NC_000004.11:g.123665147T>C , CM000666.1:g.123665147T>C GRCh37
NC_000004.10:g.123884597T>C NCBI36
NG_021203.1:g.16291T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000314218.8:c.2100T>C MANE Select ENSP00000319062.3:p.Asn700=
ENST00000314218.7:c.2100T>C ENSP00000319062.3:p.Asn700=
ENST00000542236.5:c.2100T>C ENSP00000438273.1:p.Asn700=
NM_001178007.1:c.2100T>C NP_001171478.1:p.Asn700=
NM_152618.2:c.2100T>C NP_689831.2:p.Asn700=
XM_011531680.1:c.2100T>C XP_011529982.1:p.Asn700=
XM_011531680.2:c.2100T>C XP_011529982.1:p.Asn700=
XM_017007831.1:c.2100T>C XP_016863320.1:p.Asn700=
NM_152618.3:c.2100T>C MANE Select NP_689831.2:p.Asn700=
NM_001178007.2:c.2100T>C NP_001171478.1:p.Asn700=
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