Canonical Allele Identifier: CA178107061
Gene:

Linked Data

dbSNP Id: rs6995588
gnomAD v2: 8-61003897-C-T
gnomAD v3: 8-60091338-C-T
gnomAD v4: 8-60091338-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60091338C>T , CM000670.2:g.60091338C>T GRCh38
NC_000008.10:g.61003897C>T , CM000670.1:g.61003897C>T GRCh37
NC_000008.9:g.61166451C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XM_011517654.1:c.151+16615C>T XP_011515956.1:n.151+16615C>T
XR_001745714.2:n.685+16615C>T