Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: 0.35 (A)
Location

Chromosome 17:63554591 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM066739

Most severe consequence
Evidence status

This variation has 4 synonyms - click the plus to show

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

17:g.63554591G>A
ENST00000375702.5:c.148C>T
ENSP00000364854.5:p.Pro50Ser
ENST00000585045.1:c.148C>T
ENSP00000463192.1:p.Pro50Ser
ENST00000577278.1:c.148C>T
ENSP00000464264.1:p.Pro50Ser
ENST00000307078.5:c.148C>T
ENSP00000302625.5:p.Pro50Ser
ENST00000544103.2:c.148C>T
ENSP00000441151.2:p.Pro50Ser
ENST00000577662.1:c.*324C>T
ENST00000580513.1:c.148C>T
ENSP00000463761.1:p.Pro50Ser
LRG_296:g.8150C>T
LRG_296t1.1:c.148C>T
LRG_296p1.1:p.Pro50Ser

This variation has assays on 7 chips - click the plus to show

Variation displays