Canonical Allele Identifier: CA337438084
Gene:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2795902C>T , CM000686.2:g.2795902C>T GRCh38
NC_000024.9:g.2663943C>T , CM000686.1:g.2663943C>T GRCh37
NC_000024.8:g.2723943C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+21163C>T
ENST00000681787.1:n.106+21163C>T
ENST00000681940.1:n.106+21163C>T