Original source

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

Alleles
C/G/T | Ancestral: C | Ambiguity code: B
Location

Chromosome 14:50912155 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CS982338

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_002863.3:c.1768+1G>A

This variation has 8 HGVS names - click the plus to show

Variant allele T
14:g.50912155C>T
ENST00000216392.7:c.1768+1G>A
ENST00000532462.3:c.1768+1G>A
ENST00000544180.4:c.1666+1G>A

Variant allele G
14:g.50912155C>G
ENST00000216392.7:c.1768+1G>C
ENST00000532462.3:c.1768+1G>C
ENST00000544180.4:c.1666+1G>C

Genotyping chips

This variation has assays on: HumanCoreExome-12

Variation displays