Canonical Allele Identifier: CA31569414
Gene:
MyVariant.info:
GRCh38 chr1:g.160776286G>A
GRCh37 chr1:g.160746076G>A
gnomAD v2:
1:160746076 G / A
gnomAD v3:
1:160776286 G / A
gnomAD v4:
chr1-160776286-G-A
Joint Max Group AF 0.99097978 (NFE)
Genomes Max Group AF 0.99097545 (NFE)
Exomes Max Group AF 0.77500538 (NFE)
dbSNP:
576523
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160776286G>A , CM000663.2:g.160776286G>A GRCh38
NC_000001.10:g.160746076G>A , CM000663.1:g.160746076G>A GRCh37
NC_000001.9:g.159012700G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000620690.1:n.262+61C>T
XR_922204.1:n.447C>T
XR_922205.1:n.414+33C>T
XR_922206.1:n.447C>T
XR_001738267.1:n.430+33C>T
XR_922205.2:n.430+33C>T
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