Original source

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

Alleles
T/C | Ancestral: T | Ambiguity code: Y
Location

Chromosome X:107640939 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM073280 ; PhenCode IPNMDB_936 (T/C)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_002764.3:c.344T>C, 8432

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

X:g.107640939T>C
ENST00000372418.2:c.106-1427T>C
ENST00000372435.6:c.344T>C
ENSP00000361512.4:p.Met115Thr
ENST00000372419.3:c.344T>C
ENSP00000361496.3:p.Met115Thr
ENST00000372428.6:c.-82-4238T>C
LRG_264:g.17516T>C
LRG_264t1.1:c.344T>C
LRG_264p1.1:p.Met115Thr

Variation displays