Canonical Allele Identifier: CA121787
Gene: MVK HGNC NCBI

Linked Data

ClinVar Variation Id: 11934
ClinVar RCV Id: RCV000012712 RCV000083890 RCV000414603 RCV000697433 RCV002262565
dbSNP Id: rs104895319
ExAC: 12:110032875 G / A
gnomAD v2: 12-110032875-G-A
gnomAD v3: 12-109595070-G-A
gnomAD v4: 12-109595070-G-A
COSMIC: COSM1946627
MyVariant Identifiers: chr12:g.110032875G>A (hg19) chr12:g.109595070G>A (hg38)
PubMed: PMID:10401001
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109595070G>A , CM000674.2:g.109595070G>A GRCh38
NC_000012.11:g.110032875G>A , CM000674.1:g.110032875G>A GRCh37
NC_000012.10:g.108517258G>A NCBI36
NG_007702.1:g.26376G>A , LRG_156:g.26376G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000539696.6:c.85G>A ENSP00000439134.1:p.Val29Met
ENST00000546277.6:c.928G>A ENSP00000438153.2:p.Val310Met
ENST00000636529.2:n.567G>A
ENST00000697195.1:c.*692G>A ENSP00000513181.1:n.*692G>A
ENST00000697196.1:c.*101G>A ENSP00000513182.1:n.*101G>A
ENST00000697197.1:n.2957G>A
ENST00000697198.1:n.1312G>A
ENST00000228510.8:c.928G>A MANE Select ENSP00000228510.3:p.Val310Met
ENST00000636529.1:c.553G>A
ENST00000636996.1:c.776G>A
ENST00000228510.7:c.928G>A ENSP00000228510.3:p.Val310Met
ENST00000392727.7:c.772G>A ENSP00000376487.3:p.Val258Met
ENST00000447878.6:c.*375G>A ENSP00000415555.2:n.*375G>A
ENST00000537237.5:c.*601G>A ENSP00000445382.1:n.*601G>A
ENST00000539575.4:c.928G>A ENSP00000443551.2:p.Val310Met
ENST00000539696.5:c.85G>A ENSP00000439134.1:p.Val29Met
ENST00000540353.1:n.3161G>A
ENST00000625889.2:c.772G>A ENSP00000486846.1:p.Val258Met
ENST00000629016.2:c.*375G>A ENSP00000486804.1:n.*375G>A
NM_000431.3:c.928G>A NP_000422.1:p.Val310Met
NM_001114185.2:c.928G>A NP_001107657.1:p.Val310Met
NM_001301182.1:c.772G>A NP_001288111.1:p.Val258Met
XM_011538372.1:c.928G>A XP_011536674.1:p.Val310Met
XM_017019313.2:c.772G>A XP_016874802.1:p.Val258Met
XM_017019314.1:c.928G>A XP_016874803.1:p.Val310Met
NM_000431.4:c.928G>A MANE Select NP_000422.1:p.Val310Met
NM_001114185.3:c.928G>A NP_001107657.1:p.Val310Met
NM_001301182.2:c.772G>A NP_001288111.1:p.Val258Met
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