Original source

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

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

Chromosome 8:134270617 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM001817 ; PhenCode IPNMDB_436 (G/A)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_001135242.1:c.442C>T, 13060

This variation has 31 HGVS names - click the plus to show

8:g.134270617G>A
ENST00000414097.2:c.442C>T
ENSP00000404854.2:p.Arg148Ter
ENST00000517331.1:n.160C>T
ENST00000517599.1:c.*48C>T
ENST00000520230.1:c.493C>T
ENSP00000428345.1:p.Arg165Ter
ENST00000323851.7:c.442C>T
ENSP00000319977.7:p.Arg148Ter
ENST00000519228.1:c.442C>T
ENSP00000429994.1:p.Arg148Ter
ENST00000518066.1:c.37-16318C>T
ENST00000354944.5:c.232C>T
ENSP00000347028.5:p.Arg78Ter
ENST00000518010.1:n.526+794C>T
ENST00000537882.1:c.199C>T
ENSP00000437443.1:p.Arg67Ter
ENST00000522476.1:c.244C>T
ENSP00000427894.1:p.Arg82Ter
ENST00000522890.1:c.442C>T
ENSP00000428384.1:p.Arg148Ter
ENST00000519580.1:c.442C>T
ENSP00000429272.1:p.Arg148Ter
ENST00000518176.1:c.49-11711C>T
ENST00000522377.1:c.442C>T
ENSP00000429380.1:p.Arg148Ter
ENST00000518480.1:c.244C>T
ENSP00000428802.1:p.Arg82Ter
LRG_258:g.43882C>T
LRG_258t1.1:c.442C>T
LRG_258p1.1:p.Arg148Ter

Variation displays