Canonical Allele Identifier: CA138085842
Gene: PGC HGNC NCBI

Linked Data

dbSNP Id: rs893630306
gnomAD v2: 6-41718911-C-T
gnomAD v3: 6-41751173-C-T
gnomAD v4: 6-41751173-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.41751173C>T , CM000668.2:g.41751173C>T GRCh38
NC_000006.11:g.41718911C>T , CM000668.1:g.41718911C>T GRCh37
NC_000006.10:g.41826889C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000415707.1:c.71+2725G>A ENSP00000399429.1:n.71+2725G>A