Original source

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

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

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

Co-located

with HGMD-PUBLIC CM032352

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 15738

This variation has 10 HGVS names - click the plus to show

Variant allele C
11:g.64751970A>C
ENST00000462303.1:n.46T>G
ENST00000164139.3:c.1722T>G
ENSP00000164139.3:p.Tyr574Ter
ENST00000377432.4:c.1458T>G
ENSP00000366650.3:p.Tyr486Ter

Variant allele G
11:g.64751970A>G
ENST00000462303.1:n.46T>C
ENST00000164139.3:c.1722T>C
ENST00000377432.4:c.1458T>C

Variation displays