Canonical Allele Identifier: CA10638162
Gene: MIP HGNC NCBI

Linked Data

ClinVar Variation Id: 309886
ClinVar RCV Id: RCV000379982
dbSNP Id: rs886049693
gnomAD v3: 12-56453765-G-A
gnomAD v4: 12-56453765-G-A
MyVariant Identifiers: chr12:g.56847549G>A (hg19) chr12:g.56453765G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56453765G>A , CM000674.2:g.56453765G>A GRCh38
NC_000012.11:g.56847549G>A , CM000674.1:g.56847549G>A GRCh37
NC_000012.10:g.55133816G>A NCBI36
NG_021397.1:g.5887C>T
NG_021397.2:g.20402C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000648304.1:c.183-10C>T ENSP00000497190.1:n.183-10C>T
ENST00000648442.1:n.494-10C>T
ENST00000650166.1:n.250-10C>T
ENST00000652304.1:c.361-10C>T MANE Select ENSP00000498622.1:n.361-10C>T
ENST00000257979.4:c.361-10C>T ENSP00000257979.4:n.361-10C>T
ENST00000555551.1:n.317-10C>T
NM_012064.3:c.361-10C>T NP_036196.1:n.361-10C>T
XM_011538354.1:c.76-10C>T XP_011536656.1:n.76-10C>T
NM_012064.4:c.361-10C>T MANE Select NP_036196.1:n.361-10C>T
XM_017019306.1:c.4-10C>T XP_016874795.1:n.4-10C>T
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