Canonical Allele Identifier: CA830285572
Gene:

Linked Data

dbSNP Id: rs1276940761
gnomAD v3: 6-98102446-T-C
gnomAD v4: 6-98102446-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98102446T>C , CM000668.2:g.98102446T>C GRCh38
NC_000006.11:g.98550322T>C , CM000668.1:g.98550322T>C GRCh37
NC_000006.10:g.98657043T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_245563.2:n.456+3176T>C
XR_942809.1:n.456+3176T>C