Canonical Allele Identifier: CA337437919
Gene:

Linked Data

dbSNP Id: rs1009536101

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2789303G>C , CM000686.2:g.2789303G>C GRCh38
NC_000024.9:g.2657344G>C , CM000686.1:g.2657344G>C GRCh37
NC_000024.8:g.2717344G>C NCBI36
NG_011751.1:g.3449C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+14564G>C
ENST00000680285.1:n.320-446G>C
ENST00000681787.1:n.106+14564G>C
ENST00000681940.1:n.106+14564G>C