Canonical Allele Identifier: CA141548191
Gene:

Linked Data

dbSNP Id: rs6912405
gnomAD v2: 6-74871231-A-G
gnomAD v3: 6-74161515-A-G
gnomAD v4: 6-74161515-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.74161515A>G , CM000668.2:g.74161515A>G GRCh38
NC_000006.11:g.74871231A>G , CM000668.1:g.74871231A>G GRCh37
NC_000006.10:g.74927951A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_110856.1:n.138+91927A>G