Canonical Allele Identifier: CA1048013724

Gene:

Linked Data

• dbSNP Id: rs1700429130
• gnomAD v3: 3-53057159-T-C
• gnomAD v4: 3-53057159-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53057159T>C , CM000665.2:g.53057159T>C	GRCh38
NC_000003.11:g.53091175T>C , CM000665.1:g.53091175T>C	GRCh37
NC_000003.10:g.53066215T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607203.1:c.318-9920A>G
ENST00000607283.5:c.465-13905A>G
ENST00000607495.5:c.447+20529A>G