Canonical Allele Identifier: CA1099424040
Gene:

Linked Data

dbSNP Id: rs1554349802
gnomAD v3: 7-24283597-C-G
gnomAD v4: 7-24283597-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24283597C>G , CM000669.2:g.24283597C>G GRCh38
NC_000007.13:g.24323216C>G , CM000669.1:g.24323216C>G GRCh37
NC_000007.12:g.24289741C>G NCBI36
NG_016148.1:g.4410C>G

Transcript Alleles

HGVS Amino-acid Change
XM_017012910.1:c.42-27898G>C XP_016868399.1:n.42-27898G>C
XM_017012911.1:c.42-27898G>C XP_016868400.1:n.42-27898G>C
XR_001745121.1:n.473+35760G>C
XR_001745122.1:n.345-86568G>C
XR_001745123.1:n.473+35760G>C
XR_001745124.1:n.473+35760G>C
XR_001745125.1:n.473+35760G>C
XR_001745126.1:n.473+35760G>C
XR_001745127.1:n.345-27898G>C
XR_001745129.1:n.473+35760G>C
XR_001745130.1:n.473+35760G>C
XR_001745131.1:n.473+35760G>C
XR_001745132.1:n.473+35760G>C
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