Canonical Allele Identifier: CA237640029
Gene: MIP HGNC NCBI

Linked Data

ClinVar Variation Id: 881982
ClinVar RCV Id: RCV001111327
dbSNP Id: rs1043213686
gnomAD v2: 12-56844109-C-T
gnomAD v3: 12-56450325-C-T
gnomAD v4: 12-56450325-C-T
MyVariant Identifiers: chr12:g.56844109C>T (hg19) chr12:g.56450325C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56450325C>T , CM000674.2:g.56450325C>T GRCh38
NC_000012.11:g.56844109C>T , CM000674.1:g.56844109C>T GRCh37
NC_000012.10:g.55130376C>T NCBI36
NG_021397.1:g.9327G>A
NG_021397.2:g.23842G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648304.1:c.*1371G>A ENSP00000497190.1:n.*1371G>A
ENST00000652304.1:c.*955G>A MANE Select ENSP00000498622.1:n.*955G>A
ENST00000257979.4:c.*955G>A ENSP00000257979.4:n.*955G>A
NM_012064.3:c.*955G>A NP_036196.1:n.*955G>A
XM_011538354.1:c.*955G>A XP_011536656.1:n.*955G>A
NM_012064.4:c.*955G>A MANE Select NP_036196.1:n.*955G>A
XM_017019306.1:c.*955G>A XP_016874795.1:n.*955G>A
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