Canonical Allele Identifier: CA552533444
Gene:

Linked Data

dbSNP Id: rs1553939488
gnomAD v2: 4-75419868-C-T
gnomAD v3: 4-74554151-C-T
gnomAD v4: 4-74554151-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.74554151C>T , CM000666.2:g.74554151C>T GRCh38
NC_000004.11:g.75419868C>T , CM000666.1:g.75419868C>T GRCh37
NC_000004.10:g.75638732C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001741513.1:n.167-1319G>A