Original source

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

Alleles
G/T | Ancestral: G | Ambiguity code: K
Location

Chromosome X:47205989 (forward strand) | View in location tab

Co-located

with COSMIC COSM1231515 (G/T) ; HGMD-PUBLIC CM080584

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 8580, NM_003334.3:c.1617G>T

This variation has 6 HGVS names - click the plus to show

X:g.47205989G>T
ENST00000335972.8:c.1617G>T
ENSP00000338413.6:p.Met539Ile
ENST00000377351.6:c.1617G>T
ENSP00000366568.4:p.Met539Ile
ENST00000490869.1:n.465-89G>T

Variation displays