Canonical Allele Identifier: CA838949456
Gene:

Linked Data

dbSNP Id: rs1360705972
gnomAD v3: 7-46033028-T-G
gnomAD v4: 7-46033028-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.46033028T>G , CM000669.2:g.46033028T>G GRCh38
NC_000007.13:g.46072626T>G , CM000669.1:g.46072626T>G GRCh37
NC_000007.12:g.46039151T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745203.1:n.1270-3590T>G