Canonical Allele Identifier: CA1365145685
Gene:

Linked Data

dbSNP Id: rs1575464924
gnomAD v3: 3-53057151-C-T
gnomAD v4: 3-53057151-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53057151C>T , CM000665.2:g.53057151C>T GRCh38
NC_000003.11:g.53091167C>T , CM000665.1:g.53091167C>T GRCh37
NC_000003.10:g.53066207C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9912G>A
ENST00000607283.5:c.465-13897G>A
ENST00000607495.5:c.447+20537G>A
Search 100 bp 5'
Search 100 bp 3'