Canonical Allele Identifier: CA1077259840

Gene:

Linked Data

• dbSNP Id: rs1774421497
• gnomAD v3: 5-70049515-T-C
• gnomAD v4: 5-70049515-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049515T>C , CM000667.2:g.70049515T>C	GRCh38
NC_000005.9:g.69345342T>C , CM000667.1:g.69345342T>C	GRCh37
NC_000005.8:g.69381098T>C	NCBI36
NG_008728.1:g.4993T>C

Transcript Alleles

HGVS	Amino-acid Change
XR_948432.1:n.1054+61511T>C