Canonical Allele Identifier: CA573373495

Gene:

Linked Data

• dbSNP Id: rs1270405026
• gnomAD v2: 7-24323122-T-C
• gnomAD v3: 7-24283503-T-C
• gnomAD v4: 7-24283503-T-C
• MyVariant Identifiers: chr7:g.24323122T>C (hg19) ; chr7:g.24283503T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24283503T>C , CM000669.2:g.24283503T>C	GRCh38
NC_000007.13:g.24323122T>C , CM000669.1:g.24323122T>C	GRCh37
NC_000007.12:g.24289647T>C	NCBI36
NG_016148.1:g.4316T>C

Transcript Alleles

HGVS	Amino-acid Change
XM_017012910.1:c.42-27804A>G	XP_016868399.1:n.42-27804A>G
XM_017012911.1:c.42-27804A>G	XP_016868400.1:n.42-27804A>G
XR_001745121.1:n.473+35854A>G
XR_001745122.1:n.345-86474A>G
XR_001745123.1:n.473+35854A>G
XR_001745124.1:n.473+35854A>G
XR_001745125.1:n.473+35854A>G
XR_001745126.1:n.473+35854A>G
XR_001745127.1:n.345-27804A>G
XR_001745129.1:n.473+35854A>G
XR_001745130.1:n.473+35854A>G
XR_001745131.1:n.473+35854A>G
XR_001745132.1:n.473+35854A>G