Canonical Allele Identifier: CA21326459
Gene:

Linked Data

dbSNP Id: rs894145137
gnomAD v3: 1-38158518-G-C
gnomAD v4: 1-38158518-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.38158518G>C , CM000663.2:g.38158518G>C GRCh38
NC_000001.10:g.38624190G>C , CM000663.1:g.38624190G>C GRCh37
NC_000001.9:g.38396777G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_947202.1:n.45-3175G>C
XR_947203.1:n.61+16804G>C
XR_947204.1:n.45-3175G>C
XR_947205.1:n.45-3175G>C
XR_001737984.1:n.45-3175G>C
XR_001737985.1:n.61+16804G>C
XR_001737986.1:n.45-3175G>C
XR_001737987.1:n.45-3175G>C
XR_002958294.1:n.45-3175G>C
XR_947205.2:n.45-3175G>C