Canonical Allele Identifier: CA560796665
Gene:

Linked Data

dbSNP Id: rs1283655503
gnomAD v2: 5-91518779-G-T
gnomAD v3: 5-92222962-G-T
gnomAD v4: 5-92222962-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.92222962G>T , CM000667.2:g.92222962G>T GRCh38
NC_000005.9:g.91518779G>T , CM000667.1:g.91518779G>T GRCh37
NC_000005.8:g.91554535G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948565.1:n.394+18278G>T