Canonical Allele Identifier: CA573373471

Gene:

Linked Data

• dbSNP Id: rs1193007119
• gnomAD v2: 7-24322559-T-A
• gnomAD v3: 7-24282940-T-A
• gnomAD v4: 7-24282940-T-A
• MyVariant Identifiers: chr7:g.24322559T>A (hg19) ; chr7:g.24282940T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24282940T>A , CM000669.2:g.24282940T>A	GRCh38
NC_000007.13:g.24322559T>A , CM000669.1:g.24322559T>A	GRCh37
NC_000007.12:g.24289084T>A	NCBI36
NG_016148.1:g.3753T>A

Transcript Alleles

HGVS	Amino-acid Change
XM_017012910.1:c.42-27241A>T	XP_016868399.1:n.42-27241A>T
XM_017012911.1:c.42-27241A>T	XP_016868400.1:n.42-27241A>T
XR_001745121.1:n.473+36417A>T
XR_001745122.1:n.345-85911A>T
XR_001745123.1:n.473+36417A>T
XR_001745124.1:n.473+36417A>T
XR_001745125.1:n.473+36417A>T
XR_001745126.1:n.473+36417A>T
XR_001745127.1:n.345-27241A>T
XR_001745129.1:n.473+36417A>T
XR_001745130.1:n.473+36417A>T
XR_001745131.1:n.473+36417A>T
XR_001745132.1:n.473+36417A>T