Canonical Allele Identifier: CA13131556
Gene:

Linked Data

dbSNP Id: rs1335510
gnomAD v2: 9-21757803-T-G
gnomAD v3: 9-21757804-T-G
gnomAD v4: 9-21757804-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21757804T>G , CM000671.2:g.21757804T>G GRCh38
NC_000009.11:g.21757803T>G , CM000671.1:g.21757803T>G GRCh37
NC_000009.10:g.21747803T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001746563.2:n.163+10021A>C