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 4:6301306 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM982040

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 6 HGVS names - click the plus to show

4:g.6301306C>T
ENST00000507765.1:n.1696C>T
ENST00000503569.2:c.1511C>T
ENSP00000423337.1:p.Pro504Leu
ENST00000226760.2:c.1511C>T
ENSP00000226760.1:p.Pro504Leu

Variation displays