Canonical Allele Identifier: CA2605767203
Gene:

Linked Data

dbSNP Id: rs2115121341
gnomAD v3: 6-160668425-T-G
gnomAD v4: 6-160668425-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160668425T>G , CM000668.2:g.160668425T>G GRCh38
NC_000006.11:g.161089457T>G , CM000668.1:g.161089457T>G GRCh37
NC_000006.10:g.161009447T>G NCBI36
NG_016147.1:g.2951A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000452651.1:n.115-2052A>C
Search 100 bp 5'
Search 100 bp 3'