Canonical Allele Identifier: CA321183
Gene: MED12 HGNC NCBI

Linked Data

ClinVar Variation Id: 213621
dbSNP Id: rs186153976
gnomAD v2: X-70342625-G-T
gnomAD v3: X-71122775-G-T
gnomAD v4: X-71122775-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71122775G>T , CM000685.2:g.71122775G>T GRCh38
NC_000023.10:g.70342625G>T , CM000685.1:g.70342625G>T GRCh37
NC_000023.9:g.70259350G>T NCBI36
NG_012808.1:g.9220G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333646.11:c.1386G>T ENSP00000333125.8:p.Val462=
ENST00000374102.6:c.1386G>T ENSP00000363215.2:p.Val462=
ENST00000686548.1:c.*1282G>T ENSP00000509582.1:n.*1282G>T
ENST00000687382.1:c.1386G>T ENSP00000510724.1:p.Val462=
ENST00000688663.1:c.1386G>T ENSP00000509348.1:p.Val462=
ENST00000688718.1:n.1866G>T
ENST00000689008.1:c.*1282G>T ENSP00000509134.1:n.*1282G>T
ENST00000690145.1:c.1386G>T ENSP00000508818.1:p.Val462=
ENST00000690242.1:c.1386G>T ENSP00000510090.1:p.Val462=
ENST00000690828.1:n.1542G>T
ENST00000691385.1:n.664G>T
ENST00000691468.1:c.1386G>T ENSP00000509011.1:p.Val462=
ENST00000692304.1:c.1386G>T ENSP00000508427.1:p.Val462=
ENST00000692864.1:c.*1282G>T ENSP00000510321.1:n.*1282G>T
ENST00000693324.1:c.1386G>T ENSP00000508643.1:p.Val462=
ENST00000374080.8:c.1386G>T MANE Select ENSP00000363193.3:p.Val462=
ENST00000333646.10:c.927G>T ENSP00000333125.7:p.Val309=
ENST00000374080.7:c.1386G>T ENSP00000363193.3:p.Val462=
ENST00000374102.5:c.1386G>T ENSP00000363215.1:p.Val462=
NM_005120.2:c.1386G>T NP_005111.2:p.Val462=
XM_005262317.1:c.1386G>T XP_005262374.1:p.Val462=
XM_005262319.1:c.1386G>T XP_005262376.1:p.Val462=
NM_005120.3:c.1386G>T MANE Select NP_005111.2:p.Val462=