Canonical Allele Identifier: CA587286157
Gene:

Linked Data

dbSNP Id: rs1385669954
gnomAD v2: 9-25551300-G-C
gnomAD v3: 9-25551302-G-C
gnomAD v4: 9-25551302-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551302G>C , CM000671.2:g.25551302G>C GRCh38
NC_000009.11:g.25551300G>C , CM000671.1:g.25551300G>C GRCh37
NC_000009.10:g.25541300G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_929525.1:n.50-730C>G
XR_929525.2:n.674-730C>G