Original source

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

Alleles
T/A | Ancestral: T | Ambiguity code: W
Location

Chromosome 8:43048967 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM065253

Most severe consequence
Clinical significance

Synonyms

LSDB 16746

This variation has 12 HGVS names - click the plus to show

8:g.43048967T>A
ENST00000520678.1:n.378T>A
ENST00000521576.1:c.596T>A
ENSP00000429029.1:p.Met199Lys
ENST00000458501.2:c.1529T>A
ENSP00000389524.2:p.Met510Lys
ENST00000297798.7:c.641T>A
ENSP00000297798.7:p.Met214Lys
ENST00000379644.4:c.1445T>A
ENSP00000368965.4:p.Met482Lys
ENST00000524016.1:c.549T>A
ENSP00000428322.1:p.Met184Lys

Variation displays