Canonical Allele Identifier: CA144319796
Gene:

Linked Data

dbSNP Id: rs112211349
gnomAD v2: 6-98550384-T-C
gnomAD v3: 6-98102508-T-C
gnomAD v4: 6-98102508-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98102508T>C , CM000668.2:g.98102508T>C GRCh38
NC_000006.11:g.98550384T>C , CM000668.1:g.98550384T>C GRCh37
NC_000006.10:g.98657105T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245563.2:n.456+3238T>C
XR_942809.1:n.456+3238T>C