Canonical Allele Identifier: CA237639981
Gene: MIP HGNC NCBI

Linked Data

dbSNP Id: rs529452116
gnomAD v2: 12-56844065-A-G
gnomAD v3: 12-56450281-A-G
gnomAD v4: 12-56450281-A-G
MyVariant Identifiers: chr12:g.56844065A>G (hg19) chr12:g.56450281A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56450281A>G , CM000674.2:g.56450281A>G GRCh38
NC_000012.11:g.56844065A>G , CM000674.1:g.56844065A>G GRCh37
NC_000012.10:g.55130332A>G NCBI36
NG_021397.1:g.9371T>C
NG_021397.2:g.23886T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000648304.1:c.*1415T>C ENSP00000497190.1:n.*1415T>C
ENST00000652304.1:c.*999T>C MANE Select ENSP00000498622.1:n.*999T>C
ENST00000257979.4:c.*999T>C ENSP00000257979.4:n.*999T>C
NM_012064.3:c.*999T>C NP_036196.1:n.*999T>C
XM_011538354.1:c.*999T>C XP_011536656.1:n.*999T>C
NM_012064.4:c.*999T>C MANE Select NP_036196.1:n.*999T>C
XM_017019306.1:c.*999T>C XP_016874795.1:n.*999T>C
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