Original source

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

Alleles
T/A/C | Ancestral: T | Ambiguity code: H | MAF: < 0.01 (C)
Location

Chromosome 6:73641810 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM003476

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_012434.4:c.406A>G, 12599

This variation has 8 HGVS names - click the plus to show

Variant allele A
6:g.73641810T>A
ENST00000355773.5:c.406A>T
ENSP00000348019.5:p.Lys136Ter
ENST00000481996.1:n.172A>T

Variant allele C
6:g.73641810T>C
ENST00000355773.5:c.406A>G
ENSP00000348019.5:p.Lys136Glu
ENST00000481996.1:n.172A>G

Variation displays