Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
A/C|Ancestral: A|Ambiguity code: M
Location

Chromosome 2:127423319 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM004278

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 17282

HGVS names

This variant has 12 HGVS names - Hide

2:g.127423319A>C
ENST00000409048.1:c.548A>C
ENSP00000386679.1:p.His183Pro
ENST00000402125.2:c.31A>C
ENSP00000384225.2:p.His11Pro
ENST00000464089.1:n.32A>C
ENST00000234071.7:c.446A>C
ENSP00000234071.3:p.His149Pro
ENST00000442644.5:c.401-12A>C
LRG_599:g.9900A>C
LRG_599t1:c.446A>C
LRG_599p1:p.His149Pro

About this variant

This variant overlaps 12 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays