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 4:185144945 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM014091

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_077_SLC25A4_103220_0003, 131

This variation has 5 HGVS names - click the plus to show

4:g.185144945T>C
ENST00000491736.1:c.293T>C
ENSP00000476711.1:p.Leu98Pro
ENST00000281456.7:c.293T>C
ENSP00000281456.5:p.Leu98Pro

Variation displays