Canonical Allele Identifier: CA8908437
Gene: MIB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 518273
ClinVar RCV Id: RCV000616914 RCV001701068 RCV001701069
dbSNP Id: rs201761957
ExAC: 18:19418308 T / C
gnomAD v2: 18-19418308-T-C
gnomAD v3: 18-21838347-T-C
gnomAD v4: 18-21838347-T-C
MyVariant Identifiers: chr18:g.19418308T>C (hg19) chr18:g.21838347T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.21838347T>C , CM000680.2:g.21838347T>C GRCh38
NC_000018.9:g.19418308T>C , CM000680.1:g.19418308T>C GRCh37
NC_000018.8:g.17672306T>C NCBI36
NG_033272.2:g.138391T>C , LRG_759:g.138391T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000695486.1:n.583-18T>C
ENST00000261537.7:c.1830-18T>C MANE Select ENSP00000261537.6:n.1830-18T>C
ENST00000261537.6:c.1830-18T>C ENSP00000261537.6:n.1830-18T>C
ENST00000578646.5:n.1807-18T>C
NM_020774.3:c.1830-18T>C , LRG_759t1:c.1830-18T>C NP_065825.1:n.1830-18T>C
XM_011526098.1:c.360-18T>C XP_011524400.1:n.360-18T>C
XM_017025873.1:c.1314-18T>C XP_016881362.1:n.1314-18T>C
NM_020774.4:c.1830-18T>C MANE Select NP_065825.1:n.1830-18T>C
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