Original source

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

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

Chromosome 14:50916718 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981685

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_002863.3:c.1016A>G

This variation has 7 HGVS names - click the plus to show

14:g.50916718T>C
ENST00000216392.7:c.1016A>G
ENSP00000216392.7:p.Asn339Ser
ENST00000532462.2:c.1016A>G
ENSP00000431657.1:p.Asn339Ser
ENST00000544180.3:c.914A>G
ENSP00000443787.1:p.Asn305Ser

Variation displays