Original source

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

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

Chromosome 1:227073246 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM000203

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 17 HGVS names - click the plus to show

1:g.227073246A>C
ENST00000422240.2:c.364A>C
ENSP00000403737.2:p.Thr122Pro
ENST00000496965.1:c.364A>C
ENSP00000430647.1:p.Thr122Pro
ENST00000366782.1:c.463A>C
ENSP00000355746.1:p.Thr155Pro
ENST00000472139.2:c.-69A>C
ENST00000495488.1:c.364A>C
ENSP00000429682.1:p.Thr122Pro
ENST00000391872.2:c.463A>C
ENSP00000375745.2:p.Thr155Pro
ENST00000366783.3:c.364A>C
ENSP00000355747.3:p.Thr122Pro
ENST00000340188.4:c.364A>C
ENSP00000339860.4:p.Thr122Pro
ENST00000460775.1:c.-21-2546A>C

Variation displays