Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M
Location

Chromosome 5:41749579 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981424

Most severe consequence
Clinical significance

Synonyms

LSDB 10155

This variation has 11 HGVS names - click the plus to show

5:g.41749579C>A
ENST00000196371.6:c.1367G>T
ENSP00000196371.5:p.Cys456Phe
ENST00000509987.1:c.809G>T
ENSP00000425348.1:p.Cys270Phe
ENST00000508557.2:n.252G>T
ENST00000513081.2:n.298G>T
ENST00000512084.2:c.176G>T
ENSP00000421143.1:p.Cys59Phe
ENST00000510634.2:c.176G>T
ENSP00000423144.1:p.Cys59Phe

Variation displays