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 7:107917404 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM034650

Most severe consequence
Clinical significance

Synonyms

LSDB 6385

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

7:g.107917404T>C
ENST00000205402.6:c.1178T>C
ENSP00000205402.3:p.Ile393Thr
ENST00000417551.2:c.1178T>C
ENSP00000390667.1:p.Ile393Thr
ENST00000437604.3:c.1034T>C
ENSP00000387542.2:p.Ile345Thr
ENST00000440410.2:c.1109T>C
ENSP00000417016.1:p.Ile370Thr
ENST00000415325.2:c.*852T>C

Variation displays