Canonical Allele Identifier: CA14234809
Gene: MVD HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.88651945C>T
GRCh37 chr16:g.88718353C>T
gnomAD v2:
16:88718353 C / T
gnomAD v3:
16:88651945 C / T
gnomAD v4:
chr16-88651945-C-T
Joint Max Group AF 0.57055371 (EAS)
Genomes Max Group AF 0.570506 (EAS)
Exomes Max Group AF 0.49916915 (AMR)
ClinVar RCV:
RCV001518209
ClinVar Variation:
1168175
dbSNP:
9932581
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88651945C>T , CM000678.2:g.88651945C>T GRCh38
NC_000016.9:g.88718353C>T , CM000678.1:g.88718353C>T GRCh37
NC_000016.8:g.87245854C>T NCBI36
NG_007291.1:g.4105G>A , LRG_52:g.4105G>A
NG_052674.1:g.16209G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301012.8:c.*580G>A MANE Select ENSP00000301012.3:n.*580G>A
ENST00000301012.7:c.*580G>A ENSP00000301012.3:n.*580G>A
ENST00000565149.5:n.2342G>A
ENST00000620002.4:c.*849G>A ENSP00000479264.1:n.*849G>A
NM_002461.2:c.*580G>A NP_002452.1:n.*580G>A
XM_011523086.1:c.*580G>A XP_011521388.1:n.*580G>A
XM_011523087.1:c.*580G>A XP_011521389.1:n.*580G>A
XM_011523088.1:c.*580G>A XP_011521390.1:n.*580G>A
XM_011523089.1:c.*580G>A XP_011521391.1:n.*580G>A
XM_011523086.2:c.*580G>A XP_011521388.1:n.*580G>A
XM_011523087.2:c.*580G>A XP_011521389.1:n.*580G>A
XM_011523088.2:c.*580G>A XP_011521390.1:n.*580G>A
XM_011523089.2:c.*580G>A XP_011521391.1:n.*580G>A
NM_002461.3:c.*580G>A MANE Select NP_002452.1:n.*580G>A
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