Canonical Allele Identifier: CA250643
Gene: MCC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14203
ClinVar RCV Id: RCV000015267
dbSNP Id: rs121917732

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.113064110C>T , CM000667.2:g.113064110C>T GRCh38
NC_000005.9:g.112399807C>T , CM000667.1:g.112399807C>T GRCh37
NC_000005.8:g.112427706C>T NCBI36
NG_012265.1:g.429721G>A

Transcript Alleles

HGVS Amino-acid change
NM_001085377.1:c.2087G>A VV NP_001078846.1:p.Arg696Gln
NM_002387.2:c.1517G>A VV NP_002378.1:p.Arg506Gln
XM_005271991.2:c.1517G>A XP_005272048.1:p.Arg506Gln
XM_005271991.3:c.1517G>A
XM_017009473.1:c.2087G>A XP_016864962.1:p.Arg696Gln
XM_017009474.1:c.1487G>A XP_016864963.1:p.Arg496Gln
XM_024446049.1:c.1328G>A XP_024301817.1:p.Arg443Gln
XM_024446050.1:c.1328G>A XP_024301818.1:p.Arg443Gln
XM_024446051.1:c.1328G>A XP_024301819.1:p.Arg443Gln
XM_024446052.1:c.1328G>A XP_024301820.1:p.Arg443Gln
NM_001085377.2:c.2087G>A VV MANE Preferred NP_001078846.2:p.Arg696Gln
ENST00000302475.8:c.1517G>A ENSP00000305617.4:p.Arg506Gln
ENST00000408903.6:c.2087G>A ENSP00000386227.3:p.Arg696Gln
ENST00000514701.5:c.1517G>A ENSP00000485220.1:p.Arg506Gln
ENST00000515367.6:c.1328G>A ENSP00000421615.2:p.Arg443Gln