Canonical Allele Identifier: CA138085831
Gene: PGC HGNC NCBI

Linked Data

dbSNP Id: rs932533027
gnomAD v2: 6-41718886-A-G
gnomAD v3: 6-41751148-A-G
gnomAD v4: 6-41751148-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.41751148A>G , CM000668.2:g.41751148A>G GRCh38
NC_000006.11:g.41718886A>G , CM000668.1:g.41718886A>G GRCh37
NC_000006.10:g.41826864A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000415707.1:c.71+2750T>C ENSP00000399429.1:n.71+2750T>C