Canonical Allele Identifier: CA3289731
Gene: CD180 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.67184176T>C
GRCh37 chr5:g.66480004T>C
Revel Score:
ENST00000256447 (MANE Select) 0.007
gnomAD v2:
5:66480004 T / C
gnomAD v3:
5:67184176 T / C
gnomAD v4:
chr5-67184176-T-C
Joint Max Group AF 0.9984405 (NFE)
Genomes Max Group AF 0.99365837 (NFE)
Exomes Max Group AF 0.99839453 (NFE)
dbSNP:
1697144
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.67184176T>C , CM000667.2:g.67184176T>C GRCh38
NC_000005.9:g.66480004T>C , CM000667.1:g.66480004T>C GRCh37
NC_000005.8:g.66515760T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000256447.5:c.667A>G MANE Select ENSP00000256447.4:p.Ile223Val
NM_005582.2:c.667A>G NP_005573.2:p.Ile223Val
XM_005248504.3:c.628A>G XP_005248561.1:p.Ile210Val
XM_005248504.4:c.628A>G XP_005248561.1:p.Ile210Val
NM_005582.3:c.667A>G MANE Select NP_005573.2:p.Ile223Val
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