Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 19:40395144 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM044034 ; PhenCode IPNMDB_701 (G/A)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 13372, 2010_April_001_091_PRX_605725_0008, NM_181882.2:c.3208C>T

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

19:g.40395144G>A
ENST00000324001.7:c.3208C>T
ENSP00000326018.6:p.Arg1070Ter
ENST00000291825.9:c.*3413C>T
LRG_265:g.23221C>T
LRG_265t2:c.3208C>T
LRG_265p2:p.Arg1070Ter
LRG_265t1:c.*3413C>T

Variation displays