Canonical Allele Identifier: CA1099423771
Gene:

Linked Data

dbSNP Id: rs1787196076
gnomAD v3: 7-24282937-G-A
gnomAD v4: 7-24282937-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24282937G>A , CM000669.2:g.24282937G>A GRCh38
NC_000007.13:g.24322556G>A , CM000669.1:g.24322556G>A GRCh37
NC_000007.12:g.24289081G>A NCBI36
NG_016148.1:g.3750G>A

Transcript Alleles

HGVS Amino-acid Change
XM_017012910.1:c.42-27238C>T XP_016868399.1:n.42-27238C>T
XM_017012911.1:c.42-27238C>T XP_016868400.1:n.42-27238C>T
XR_001745121.1:n.473+36420C>T
XR_001745122.1:n.345-85908C>T
XR_001745123.1:n.473+36420C>T
XR_001745124.1:n.473+36420C>T
XR_001745125.1:n.473+36420C>T
XR_001745126.1:n.473+36420C>T
XR_001745127.1:n.345-27238C>T
XR_001745129.1:n.473+36420C>T
XR_001745130.1:n.473+36420C>T
XR_001745131.1:n.473+36420C>T
XR_001745132.1:n.473+36420C>T