Canonical Allele Identifier: CA1138669503

Gene:

Linked Data

• dbSNP Id: rs2051130138
• gnomAD v3: Y-2800339-T-C
• gnomAD v4: Y-2800339-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2800339T>C , CM000686.2:g.2800339T>C	GRCh38
NC_000024.9:g.2668380T>C , CM000686.1:g.2668380T>C	GRCh37
NC_000024.8:g.2728380T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000679518.1:n.106+25600T>C
ENST00000681787.1:n.106+25600T>C
ENST00000681940.1:n.106+25600T>C