Canonical Allele Identifier: CA237639998
Gene: MIP HGNC NCBI

Linked Data

ClinVar Variation Id: 880563
ClinVar RCV Id: RCV001108972
dbSNP Id: rs543075454
gnomAD v2: 12-56844095-C-T
gnomAD v3: 12-56450311-C-T
gnomAD v4: 12-56450311-C-T
MyVariant Identifiers: chr12:g.56844095C>T (hg19) chr12:g.56450311C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56450311C>T , CM000674.2:g.56450311C>T GRCh38
NC_000012.11:g.56844095C>T , CM000674.1:g.56844095C>T GRCh37
NC_000012.10:g.55130362C>T NCBI36
NG_021397.1:g.9341G>A
NG_021397.2:g.23856G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648304.1:c.*1385G>A ENSP00000497190.1:n.*1385G>A
ENST00000652304.1:c.*969G>A MANE Select ENSP00000498622.1:n.*969G>A
ENST00000257979.4:c.*969G>A ENSP00000257979.4:n.*969G>A
NM_012064.3:c.*969G>A NP_036196.1:n.*969G>A
XM_011538354.1:c.*969G>A XP_011536656.1:n.*969G>A
NM_012064.4:c.*969G>A MANE Select NP_036196.1:n.*969G>A
XM_017019306.1:c.*969G>A XP_016874795.1:n.*969G>A
Search 100 bp 5'
Search 100 bp 3'