Original source

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

Alleles
C/A/G | Ancestral: C | Ambiguity code: V
Location

Chromosome 7:22977340 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CS064403

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_032581.3:c.414+1G>T, NM_032581.2:c.414+1G>C

This variation has 10 HGVS names - click the plus to show

Variant allele A
7:g.22977340C>A
ENST00000440481.3:c.569+1G>T
ENST00000432176.4:c.414+1G>T
ENST00000477349.3:n.504+1G>T
ENST00000409923.3:c.414+1G>T

Variant allele G
7:g.22977340C>G
ENST00000440481.3:c.569+1G>C
ENST00000432176.4:c.414+1G>C
ENST00000477349.3:n.504+1G>C
ENST00000409923.3:c.414+1G>C

Variation displays