Original source

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

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

Chromosome 1:201331116 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM043595

Most severe consequence
Clinical significance

Synonyms

LSDB 5871

This variation has 28 HGVS names - click the plus to show

1:g.201331116C>A
ENST00000367318.5:c.614G>T
ENSP00000356287.5:p.Arg205Leu
ENST00000491504.1:n.1853G>T
ENST00000458432.2:c.641G>T
ENSP00000387874.2:p.Arg214Leu
ENST00000460780.1:n.937G>T
ENST00000367317.4:c.614G>T
ENSP00000356286.4:p.Arg205Leu
ENST00000367315.2:c.605G>T
ENSP00000356284.2:p.Arg202Leu
ENST00000360372.4:c.599G>T
ENSP00000353535.4:p.Arg200Leu
ENST00000367322.1:c.605G>T
ENSP00000356291.1:p.Arg202Leu
ENST00000421663.2:c.623G>T
ENSP00000404134.2:p.Arg208Leu
ENST00000509001.1:c.614G>T
ENSP00000422031.1:p.Arg205Leu
ENST00000438742.1:c.596G>T
ENSP00000414036.1:p.Arg199Leu
ENST00000476888.1:n.99G>T
ENST00000367320.2:c.515G>T
ENSP00000356289.2:p.Arg172Leu
ENST00000515042.1:n.540G>T
ENST00000236918.7:c.629G>T
ENSP00000236918.7:p.Arg210Leu
ENST00000479297.1:n.330G>T

Variation displays