Canonical Allele Identifier: CA149892
Gene: MVK HGNC NCBI

Linked Data

ClinVar Variation Id: 97618
ClinVar RCV Id: RCV000083870
dbSNP Id: rs104895347

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109590884G>C , CM000674.2:g.109590884G>C GRCh38
NC_000012.11:g.110028689G>C , CM000674.1:g.110028689G>C GRCh37
NC_000012.10:g.108513072G>C NCBI36
NG_007702.1:g.22190G>C , LRG_156:g.22190G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000539696.6:c.-76+23G>C ENSP00000439134.1:n.-76+23G>C
ENST00000546277.6:c.768+23G>C ENSP00000438153.2:n.768+23G>C
ENST00000636529.2:n.407+23G>C
ENST00000697195.1:c.*532+23G>C ENSP00000513181.1:n.*532+23G>C
ENST00000697196.1:c.856+23G>C ENSP00000513182.1:n.856+23G>C
ENST00000697197.1:n.2441G>C
ENST00000228510.8:c.768+23G>C MANE Select ENSP00000228510.3:n.768+23G>C
ENST00000636529.1:c.393+23G>C
ENST00000636996.1:c.616+23G>C
ENST00000228510.7:c.768+23G>C ENSP00000228510.3:n.768+23G>C
ENST00000392727.7:c.612+23G>C ENSP00000376487.3:n.612+23G>C
ENST00000447878.6:c.*215+23G>C ENSP00000415555.2:n.*215+23G>C
ENST00000537237.5:c.*442-357G>C ENSP00000445382.1:n.*442-357G>C
ENST00000539575.4:c.768+23G>C ENSP00000443551.2:n.768+23G>C
ENST00000539696.5:c.-76+23G>C ENSP00000439134.1:n.-76+23G>C
ENST00000540353.1:n.3001+23G>C
ENST00000625889.2:c.612+23G>C ENSP00000486846.1:n.612+23G>C
ENST00000629016.2:c.*215+23G>C ENSP00000486804.1:n.*215+23G>C
NM_000431.3:c.768+23G>C NP_000422.1:n.768+23G>C
NM_001114185.2:c.768+23G>C NP_001107657.1:n.768+23G>C
NM_001301182.1:c.612+23G>C NP_001288111.1:n.612+23G>C
XM_011538372.1:c.768+23G>C XP_011536674.1:n.768+23G>C
XM_017019313.2:c.612+23G>C XP_016874802.1:n.612+23G>C
XM_017019314.1:c.768+23G>C XP_016874803.1:n.768+23G>C
XM_024448982.1:c.768+23G>C XP_024304750.1:n.768+23G>C
NM_000431.4:c.768+23G>C MANE Select NP_000422.1:n.768+23G>C
NM_001114185.3:c.768+23G>C NP_001107657.1:n.768+23G>C
NM_001301182.2:c.612+23G>C NP_001288111.1:n.612+23G>C