Canonical Allele Identifier: CA836961113
Gene:

Linked Data

dbSNP Id: rs1384441887
gnomAD v3: 7-24413352-T-G
gnomAD v4: 7-24413352-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24413352T>G , CM000669.2:g.24413352T>G GRCh38
NC_000007.13:g.24452971T>G , CM000669.1:g.24452971T>G GRCh37
NC_000007.12:g.24419496T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_017012910.1:c.-89+31707A>C XP_016868399.1:n.-89+31707A>C
XM_017012911.1:c.-89+31707A>C XP_016868400.1:n.-89+31707A>C
XR_001745121.1:n.344+31707A>C
XR_001745122.1:n.344+31707A>C
XR_001745123.1:n.344+31707A>C
XR_001745124.1:n.344+31707A>C
XR_001745125.1:n.344+31707A>C
XR_001745126.1:n.344+31707A>C
XR_001745127.1:n.344+31707A>C
XR_001745129.1:n.344+31707A>C
XR_001745130.1:n.344+31707A>C
XR_001745131.1:n.344+31707A>C
XR_001745132.1:n.344+31707A>C