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 7:76303841 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041373, CM108630 ; PhenCode IPNMDB_401 (C/T)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 10819, 2010_April_001_032_HSPB1_602195_0001

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

7:g.76303841C>T
ENST00000248553.6:c.404C>T
ENSP00000248553.6:p.Ser135Phe
ENST00000447574.1:c.*568C>T
ENST00000429938.1:c.-101C>T
LRG_248:g.6284C>T
LRG_248t1:c.404C>T
LRG_248p1:p.Ser135Phe

Variation displays