Canonical Allele Identifier: CA6632679
Gene: MIP HGNC NCBI

Linked Data

ClinVar Variation Id: 309889
ClinVar RCV Id: RCV000291340 RCV001565058
dbSNP Id: rs61759527
ExAC: 12:56848407 G / T
gnomAD v2: 12-56848407-G-T
gnomAD v3: 12-56454623-G-T
gnomAD v4: 12-56454623-G-T
MyVariant Identifiers: chr12:g.56848407G>T (hg19) chr12:g.56454623G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56454623G>T , CM000674.2:g.56454623G>T GRCh38
NC_000012.11:g.56848407G>T , CM000674.1:g.56848407G>T GRCh37
NC_000012.10:g.55134674G>T NCBI36
NG_021397.1:g.5029C>A
NG_021397.2:g.19544C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648304.1:c.183-868C>A ENSP00000497190.1:n.183-868C>A
ENST00000648442.1:n.494-868C>A
ENST00000650166.1:n.250-868C>A
ENST00000652304.1:c.-10C>A MANE Select ENSP00000498622.1:n.-10C>A
ENST00000257979.4:c.-10C>A ENSP00000257979.4:n.-10C>A
ENST00000555551.1:n.317-868C>A
NM_012064.3:c.-10C>A NP_036196.1:n.-10C>A
XM_011538354.1:c.76-868C>A XP_011536656.1:n.76-868C>A
NM_012064.4:c.-10C>A MANE Select NP_036196.1:n.-10C>A
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