Canonical Allele Identifier: CA1085301497

Gene:

Linked Data

• dbSNP Id: rs1761315594
• gnomAD v3: 6-1535612-T-C
• gnomAD v4: 6-1535612-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.1535612T>C , CM000668.2:g.1535612T>C	GRCh38
NC_000006.11:g.1535847T>C , CM000668.1:g.1535847T>C	GRCh37
NC_000006.10:g.1480846T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_427861.2:n.234+16734A>G
XR_926380.1:n.218-2844T>C
XR_926381.1:n.1108-2844T>C
XR_926382.1:n.235-6433A>G
XR_926384.1:n.200-6433A>G
XR_001743921.1:n.235-6457A>G
XR_427861.3:n.234+16734A>G
XR_926381.2:n.1123-2844T>C