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 1:227083249 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM014082

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 14 HGVS names - click the plus to show

1:g.227083249A>C
ENST00000496965.1:c.*218+17A>C
ENST00000422240.2:c.1313A>C
ENSP00000403737.2:p.Asp438Ala
ENST00000366782.1:c.1415A>C
ENSP00000355746.1:p.Asp472Ala
ENST00000472139.2:c.884A>C
ENSP00000427806.1:p.Asp295Ala
ENST00000391872.2:c.1415A>C
ENSP00000375745.2:p.Asp472Ala
ENST00000366783.3:c.1316A>C
ENSP00000355747.3:p.Asp439Ala
ENST00000340188.4:c.1217A>C
ENSP00000339860.4:p.Asp406Ala

Variation displays