Canonical Allele Identifier: CA591591204
Gene:

Linked Data

dbSNP Id: rs1190190694
gnomAD v2: 10-3409013-G-T
gnomAD v3: 10-3366821-G-T
gnomAD v4: 10-3366821-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.3366821G>T , CM000672.2:g.3366821G>T GRCh38
NC_000010.10:g.3409013G>T , CM000672.1:g.3409013G>T GRCh37
NC_000010.9:g.3399013G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_131187.1:n.162+47965G>T