Original source

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

Alleles
A/C/G|Ancestral: A|Ambiguity code: V
Location

Chromosome 11:64751970 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM032352

Most severe consequence
 
Stop gained
Evidence status

Synonyms

LSDB 15738

HGVS names

This variant has 12 HGVS names - Hide

Variant allele C
11:g.64751970A>C
ENST00000462303.1:n.46T>G
ENST00000164139.3:c.1722T>G
ENSP00000164139.3:p.Tyr574Ter
ENST00000377432.7:c.1458T>G
ENSP00000366650.3:p.Tyr486Ter

Variant allele G
11:g.64751970A>G
ENST00000462303.1:n.46T>C
ENST00000164139.3:c.1722T>C
ENST00000164139.3:c.1722T>C(p.=)
ENST00000377432.7:c.1458T>C
ENST00000377432.7:c.1458T>C(p.=)

About this variant

This variant overlaps 10 transcripts and is associated with 2 phenotypes.

Variant displays