Canonical Allele Identifier: CA1138946747

Gene:

Linked Data

• dbSNP Id: rs2015450916
• gnomAD v3: Y-8734195-C-T
• gnomAD v4: Y-8734195-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.8734195C>T , CM000686.2:g.8734195C>T	GRCh38
NC_000024.9:g.8602236C>T , CM000686.1:g.8602236C>T	GRCh37
NC_000024.8:g.8662236C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623558.1:c.197-5635C>T	ENSP00000485446.1:n.197-5635C>T
ENST00000624237.1:c.64-7860C>T	ENSP00000485137.1:n.64-7860C>T
ENST00000624593.1:c.-57+14521G>A	ENSP00000485106.1:n.-57+14521G>A