Canonical Allele Identifier: CA1139019633
Gene:

Linked Data

dbSNP Id: rs2015296525
gnomAD v3: Y-8605990-C-A
gnomAD v4: Y-8605990-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8605990C>A , CM000686.2:g.8605990C>A GRCh38
NC_000024.9:g.8474031C>A , CM000686.1:g.8474031C>A GRCh37
NC_000024.8:g.8534031C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000624507.1:c.53-959G>T ENSP00000485522.1:n.53-959G>T
ENST00000624593.1:c.92+16862G>T ENSP00000485106.1:n.92+16862G>T
Search 100 bp 5'
Search 100 bp 3'