Canonical Allele Identifier: CA101482555
Gene:

Linked Data

dbSNP Id: rs961675229
gnomAD v3: 4-89597785-T-G
gnomAD v4: 4-89597785-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89597785T>G , CM000666.2:g.89597785T>G GRCh38
NC_000004.11:g.90518936T>G , CM000666.1:g.90518936T>G GRCh37
NC_000004.10:g.90737959T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938986.1:n.298+9845T>G
XR_938987.1:n.433-368T>G
XR_938988.1:n.299-368T>G
XR_938990.1:n.298+9845T>G
XR_938991.1:n.298+9845T>G
XR_938992.1:n.298+9845T>G
XR_938994.1:n.643+9845T>G
XR_938995.1:n.477+9845T>G
XR_938996.1:n.298+9845T>G
XR_938997.1:n.298+9845T>G
XR_938986.2:n.323+9845T>G
XR_938987.2:n.493-368T>G