Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

with HGMD-PUBLIC CM004278

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 17282

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

2:g.127423319A>C
ENST00000402125.2:c.31A>C
ENSP00000384225.2:p.His11Pro
ENST00000409048.1:c.548A>C
ENSP00000386679.1:p.His183Pro
ENST00000464089.1:n.32A>C
ENST00000234071.6:c.446A>C
ENSP00000234071.3:p.His149Pro
ENST00000442644.4:c.401-12A>C

About this variant

This variant overlaps 12 transcripts and is associated with 2 phenotypes.

Variation displays