Original source

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

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

Chromosome X:107640993 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM073281

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 8434, NM_002764.3:c.398A>C

This variation has 10 HGVS names - click the plus to show

X:g.107640993A>C
ENST00000372418.2:c.106-1373A>C
ENST00000372419.3:c.398A>C
ENSP00000361496.3:p.Gln133Pro
ENST00000372435.5:c.398A>C
ENSP00000361512.4:p.Gln133Pro
ENST00000372428.5:c.-82-4184A>C
LRG_264:g.17570A>C
LRG_264t1.1:c.398A>C
LRG_264p1.1:p.Gln133Pro

Variation displays