Canonical Allele Identifier: CA101489370
Gene:

Linked Data

dbSNP Id: rs900044934
gnomAD v3: 4-89655950-G-C
gnomAD v4: 4-89655950-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89655950G>C , CM000666.2:g.89655950G>C GRCh38
NC_000004.11:g.90577101G>C , CM000666.1:g.90577101G>C GRCh37
NC_000004.10:g.90796124G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938986.1:n.434+28033G>C
XR_938987.1:n.688+28033G>C
XR_938988.1:n.554+28033G>C
XR_938990.1:n.299-35335G>C
XR_938991.1:n.434+28033G>C
XR_938994.1:n.779+28033G>C
XR_938995.1:n.613+28033G>C
XR_938986.2:n.459+28033G>C
XR_938987.2:n.748+28033G>C