Canonical Allele Identifier: CA149853
Gene: MVK HGNC NCBI

Linked Data

ClinVar Variation Id: 97601
dbSNP Id: rs104895332

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109586102T>C , CM000674.2:g.109586102T>C GRCh38
NC_000012.11:g.110023907T>C , CM000674.1:g.110023907T>C GRCh37
NC_000012.10:g.108508290T>C NCBI36
NG_007702.1:g.17408T>C , LRG_156:g.17408T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000539696.6:c.-91-4744T>C ENSP00000439134.1:n.-91-4744T>C
ENST00000546277.6:c.608T>C ENSP00000438153.2:p.Val203Ala
ENST00000636529.2:n.159T>C
ENST00000697195.1:c.*372T>C ENSP00000513181.1:n.*372T>C
ENST00000697196.1:c.608T>C ENSP00000513182.1:p.Val203Ala
ENST00000228510.8:c.608T>C MANE Select ENSP00000228510.3:p.Val203Ala
ENST00000636529.1:c.145T>C
ENST00000636996.1:c.456T>C
ENST00000228510.7:c.608T>C ENSP00000228510.3:p.Val203Ala
ENST00000392727.7:c.452T>C ENSP00000376487.3:p.Val151Ala
ENST00000447878.6:c.*55T>C ENSP00000415555.2:n.*55T>C
ENST00000537237.5:c.*372T>C ENSP00000445382.1:n.*372T>C
ENST00000539575.4:c.608T>C ENSP00000443551.2:p.Val203Ala
ENST00000539696.5:c.-91-4744T>C ENSP00000439134.1:n.-91-4744T>C
ENST00000545516.1:n.153T>C
ENST00000545774.5:c.*55T>C ENSP00000443978.1:n.*55T>C
ENST00000625889.2:c.452T>C ENSP00000486846.1:p.Val151Ala
ENST00000629016.2:c.*55T>C ENSP00000486804.1:n.*55T>C
NM_000431.3:c.608T>C NP_000422.1:p.Val203Ala
NM_001114185.2:c.608T>C NP_001107657.1:p.Val203Ala
NM_001301182.1:c.452T>C NP_001288111.1:p.Val151Ala
XM_011538372.1:c.608T>C XP_011536674.1:p.Val203Ala
XM_017019313.2:c.452T>C XP_016874802.1:p.Val151Ala
XM_017019314.1:c.608T>C XP_016874803.1:p.Val203Ala
XM_024448982.1:c.608T>C XP_024304750.1:p.Val203Ala
NM_000431.4:c.608T>C MANE Select NP_000422.1:p.Val203Ala
NM_001114185.3:c.608T>C NP_001107657.1:p.Val203Ala
NM_001301182.2:c.452T>C NP_001288111.1:p.Val151Ala