Canonical Allele Identifier: CA337437916
Gene:

Linked Data

dbSNP Id: rs751424595
gnomAD v3: Y-2789173-G-C
gnomAD v4: Y-2789173-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2789173G>C , CM000686.2:g.2789173G>C GRCh38
NC_000024.9:g.2657214G>C , CM000686.1:g.2657214G>C GRCh37
NC_000024.8:g.2717214G>C NCBI36
NG_011751.1:g.3579C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+14434G>C
ENST00000680285.1:n.320-576G>C
ENST00000681787.1:n.106+14434G>C
ENST00000681940.1:n.106+14434G>C