Original source

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

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

Chromosome 1:209650023 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM950743

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

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

1:g.209650023G>A
ENST00000356082.6:c.124C>T
ENSP00000348384.3:p.Arg42Ter
ENST00000415782.1:c.124C>T
ENSP00000388960.1:p.Arg42Ter
ENST00000367030.5:c.124C>T
ENSP00000355997.3:p.Arg42Ter
ENST00000391911.3:c.124C>T
ENSP00000375778.1:p.Arg42Ter

Variation displays