Canonical Allele Identifier: CA603655564
Gene:

Linked Data

dbSNP Id: rs1219151503
gnomAD v2: 12-21283318-T-C
gnomAD v3: 12-21130384-T-C
gnomAD v4: 12-21130384-T-C
MyVariant Identifiers: chr12:g.21283318T>C (hg19) chr12:g.21130384T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21130384T>C , CM000674.2:g.21130384T>C GRCh38
NC_000012.11:g.21283318T>C , CM000674.1:g.21283318T>C GRCh37
NC_000012.10:g.21174585T>C NCBI36
NG_011745.1:g.4191T>C , LRG_1022:g.4191T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000543498.5:c.281-11130T>C
ENST00000585342.5:c.371-739T>C ENSP00000467594.1:n.371-739T>C
ENST00000590779.5:c.377-739T>C
ENST00000592513.1:c.358-739T>C
ENST00000593147.5:c.406-739T>C ENSP00000467209.1:n.406-739T>C
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