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 7:76304100 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041376 ; PhenCode IPNMDB_404 (C/T)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 10822, 2010_April_001_035_HSPB1_602195_0004

This variation has 9 HGVS names - click the plus to show

7:g.76304100C>T
ENST00000248553.6:c.545C>T
ENSP00000248553.6:p.Pro182Leu
ENST00000447574.1:c.*709C>T
ENST00000429938.1:c.41C>T
ENSP00000405285.1:p.Pro14Leu
LRG_248:g.6543C>T
LRG_248t1.1:c.545C>T
LRG_248p1.1:p.Pro182Leu

Variation displays