Canonical Allele Identifier: CA976332635

Gene:

Linked Data

• dbSNP Id: rs2057282934
• gnomAD v3: 16-31090828-T-C
• gnomAD v4: 16-31090828-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31090828T>C , CM000678.2:g.31090828T>C	GRCh38
NC_000016.9:g.31102149T>C , CM000678.1:g.31102149T>C	GRCh37
NC_000016.8:g.31009650T>C	NCBI36
NG_011564.1:g.9128A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529564.1:c.283+2484A>G	ENSP00000431371.1:n.283+2484A>G
ENST00000532364.1:c.173+3729A>G	ENSP00000460316.1:n.173+3729A>G
ENST00000533518.5:c.407+264A>G