Canonical Allele Identifier: CA948006253
Gene: MIP HGNC NCBI

Linked Data

dbSNP Id: rs1868549298
gnomAD v3: 12-56450306-C-G
gnomAD v4: 12-56450306-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56450306C>G , CM000674.2:g.56450306C>G GRCh38
NC_000012.11:g.56844090C>G , CM000674.1:g.56844090C>G GRCh37
NC_000012.10:g.55130357C>G NCBI36
NG_021397.1:g.9346G>C
NG_021397.2:g.23861G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000648304.1:c.*1390G>C ENSP00000497190.1:n.*1390G>C
ENST00000652304.1:c.*974G>C MANE Select ENSP00000498622.1:n.*974G>C
ENST00000257979.4:c.*974G>C ENSP00000257979.4:n.*974G>C
NM_012064.3:c.*974G>C NP_036196.1:n.*974G>C
XM_011538354.1:c.*974G>C XP_011536656.1:n.*974G>C
NM_012064.4:c.*974G>C MANE Select NP_036196.1:n.*974G>C
XM_017019306.1:c.*974G>C XP_016874795.1:n.*974G>C
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