Canonical Allele Identifier: CA632705498

Gene:

Linked Data

• dbSNP Id: rs1326571058
• gnomAD v2: 19-34012951-C-T
• gnomAD v3: 19-33522045-C-T
• gnomAD v4: 19-33522045-C-T
• MyVariant Identifiers: chr19:g.34012951C>T (hg19) ; chr19:g.33522045C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33522045C>T , CM000681.2:g.33522045C>T	GRCh38
NC_000019.9:g.34012951C>T , CM000681.1:g.34012951C>T	GRCh37
NC_000019.8:g.38704791C>T	NCBI36
NG_013358.1:g.4849G>A
NG_013358.2:g.4849G>A

Transcript Alleles

HGVS	Amino-acid Change
XR_935918.1:n.73+31C>T
XR_935919.1:n.72+27C>T
XR_001754035.2:n.81+31C>T
XR_935918.2:n.81+31C>T