Canonical Allele Identifier: CA191701697
Gene:

Linked Data

dbSNP Id: rs956937737
gnomAD v2: 9-25551344-G-C
gnomAD v3: 9-25551346-G-C
gnomAD v4: 9-25551346-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551346G>C , CM000671.2:g.25551346G>C GRCh38
NC_000009.11:g.25551344G>C , CM000671.1:g.25551344G>C GRCh37
NC_000009.10:g.25541344G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_929525.1:n.50-774C>G
XR_929525.2:n.674-774C>G