Canonical Allele Identifier: CA10584396
Gene: MVK HGNC NCBI

Linked Data

ClinVar Variation Id: 246131
ClinVar RCV Id: RCV000237078
dbSNP Id: rs879254114

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109586118C>T , CM000674.2:g.109586118C>T GRCh38
NC_000012.11:g.110023923C>T , CM000674.1:g.110023923C>T GRCh37
NC_000012.10:g.108508306C>T NCBI36
NG_007702.1:g.17424C>T , LRG_156:g.17424C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000539696.6:c.-91-4728C>T ENSP00000439134.1:n.-91-4728C>T
ENST00000546277.6:c.624C>T ENSP00000438153.2:p.Ser208=
ENST00000636529.2:n.175C>T
ENST00000697195.1:c.*388C>T ENSP00000513181.1:n.*388C>T
ENST00000697196.1:c.624C>T ENSP00000513182.1:p.Ser208=
ENST00000228510.8:c.624C>T MANE Select ENSP00000228510.3:p.Ser208=
ENST00000636529.1:c.161C>T
ENST00000636996.1:c.472C>T
ENST00000228510.7:c.624C>T ENSP00000228510.3:p.Ser208=
ENST00000392727.7:c.468C>T ENSP00000376487.3:p.Ser156=
ENST00000447878.6:c.*71C>T ENSP00000415555.2:n.*71C>T
ENST00000537237.5:c.*388C>T ENSP00000445382.1:n.*388C>T
ENST00000539575.4:c.624C>T ENSP00000443551.2:p.Ser208=
ENST00000539696.5:c.-91-4728C>T ENSP00000439134.1:n.-91-4728C>T
ENST00000545516.1:n.169C>T
ENST00000545774.5:c.*71C>T ENSP00000443978.1:n.*71C>T
ENST00000625889.2:c.468C>T ENSP00000486846.1:p.Ser156=
ENST00000629016.2:c.*71C>T ENSP00000486804.1:n.*71C>T
NM_000431.3:c.624C>T NP_000422.1:p.Ser208=
NM_001114185.2:c.624C>T NP_001107657.1:p.Ser208=
NM_001301182.1:c.468C>T NP_001288111.1:p.Ser156=
XM_011538372.1:c.624C>T XP_011536674.1:p.Ser208=
XM_017019313.2:c.468C>T XP_016874802.1:p.Ser156=
XM_017019314.1:c.624C>T XP_016874803.1:p.Ser208=
XM_024448982.1:c.624C>T XP_024304750.1:p.Ser208=
NM_000431.4:c.624C>T MANE Select NP_000422.1:p.Ser208=
NM_001114185.3:c.624C>T NP_001107657.1:p.Ser208=
NM_001301182.2:c.468C>T NP_001288111.1:p.Ser156=