Canonical Allele Identifier: CA144309872
Gene:

Linked Data

dbSNP Id: rs910454191
gnomAD v2: 6-98462375-T-C
gnomAD v3: 6-98014499-T-C
gnomAD v4: 6-98014499-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98014499T>C , CM000668.2:g.98014499T>C GRCh38
NC_000006.11:g.98462375T>C , CM000668.1:g.98462375T>C GRCh37
NC_000006.10:g.98569096T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245563.2:n.371+45033T>C
XR_942809.1:n.371+45033T>C