Canonical Allele Identifier: CA237639901
Gene: MIP HGNC NCBI

Linked Data

dbSNP Id: rs148291504
gnomAD v2: 12-56843903-T-C
gnomAD v3: 12-56450119-T-C
gnomAD v4: 12-56450119-T-C
MyVariant Identifiers: chr12:g.56843903T>C (hg19) chr12:g.56450119T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56450119T>C , CM000674.2:g.56450119T>C GRCh38
NC_000012.11:g.56843903T>C , CM000674.1:g.56843903T>C GRCh37
NC_000012.10:g.55130170T>C NCBI36
NG_021397.1:g.9533A>G
NG_021397.2:g.24048A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648304.1:c.*1577A>G ENSP00000497190.1:n.*1577A>G
ENST00000652304.1:c.*1161A>G MANE Select ENSP00000498622.1:n.*1161A>G
ENST00000257979.4:c.*1161A>G ENSP00000257979.4:n.*1161A>G
NM_012064.3:c.*1161A>G NP_036196.1:n.*1161A>G
XM_011538354.1:c.*1161A>G XP_011536656.1:n.*1161A>G
NM_012064.4:c.*1161A>G MANE Select NP_036196.1:n.*1161A>G
XM_017019306.1:c.*1161A>G XP_016874795.1:n.*1161A>G
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