Original source

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

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

Chromosome 5:143282014 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM074389

Most severe consequence
Clinical significance

Synonyms

LSDB 2198

This variation has 16 HGVS names - click the plus to show

5:g.143282014A>G
ENST00000394464.4:c.2209T>C
ENSP00000377977.2:p.Phe737Leu
ENST00000231509.5:c.2212T>C
ENSP00000231509.3:p.Phe738Leu
ENST00000503201.1:c.2209T>C
ENSP00000427672.1:p.Phe737Leu
ENST00000504572.3:c.2212T>C
ENSP00000422518.1:p.Phe738Leu
ENST00000424646.4:c.2131T>C
ENSP00000405282.2:p.Phe711Leu
ENST00000343796.4:c.2209T>C
ENSP00000343205.2:p.Phe737Leu
ENST00000415690.4:c.2181+554T>C
ENST00000394466.4:c.2212T>C
ENSP00000377979.2:p.Phe738Leu

Variation displays