Canonical Allele Identifier: CA148572201

Gene:

Linked Data

• dbSNP Id: rs144727873
• gnomAD v2: 6-136123095-G-A
• gnomAD v3: 6-135801957-G-A
• gnomAD v4: 6-135801957-G-A
• MyVariant Identifiers: chr6:g.136123095G>A (hg19) ; chr6:g.135801957G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135801957G>A , CM000668.2:g.135801957G>A	GRCh38
NC_000006.11:g.136123095G>A , CM000668.1:g.136123095G>A	GRCh37
NC_000006.10:g.136164788G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_943034.1:n.641+607C>T
XR_943034.2:n.1739+607C>T