Canonical Allele Identifier: CA237639923
Gene: MIP HGNC NCBI

Linked Data

dbSNP Id: rs919948630
gnomAD v2: 12-56843950-C-T
gnomAD v3: 12-56450166-C-T
gnomAD v4: 12-56450166-C-T
MyVariant Identifiers: chr12:g.56843950C>T (hg19) chr12:g.56450166C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56450166C>T , CM000674.2:g.56450166C>T GRCh38
NC_000012.11:g.56843950C>T , CM000674.1:g.56843950C>T GRCh37
NC_000012.10:g.55130217C>T NCBI36
NG_021397.1:g.9486G>A
NG_021397.2:g.24001G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648304.1:c.*1530G>A ENSP00000497190.1:n.*1530G>A
ENST00000652304.1:c.*1114G>A MANE Select ENSP00000498622.1:n.*1114G>A
ENST00000257979.4:c.*1114G>A ENSP00000257979.4:n.*1114G>A
NM_012064.3:c.*1114G>A NP_036196.1:n.*1114G>A
XM_011538354.1:c.*1114G>A XP_011536656.1:n.*1114G>A
NM_012064.4:c.*1114G>A MANE Select NP_036196.1:n.*1114G>A
XM_017019306.1:c.*1114G>A XP_016874795.1:n.*1114G>A
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