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 7:76304007 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041375 ; PhenCode IPNMDB_403 (C/T)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_034_HSPB1_602195_0003, 10821

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

7:g.76304007C>T
ENST00000248553.6:c.452C>T
ENSP00000248553.6:p.Thr151Ile
ENST00000447574.1:c.*616C>T
ENST00000429938.1:c.-53C>T
LRG_248:g.6450C>T
LRG_248t1.1:c.452C>T
LRG_248p1.1:p.Thr151Ile

Variation displays