Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | View in dbSNP

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 2:74378104 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM030648 ; PhenCode IPNMDB_643 (C/T)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_004082.4:c.175G>A, 9921

This variation has 27 HGVS names - click the plus to show

Variation displays