Linked Data
ClinVar Variation Id:
3139897
ClinVar RCV Id:
RCV004430721
dbSNP Id:
rs984643266
gnomAD v2:
11-69462876-C-T
gnomAD v4:
11-69648108-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648108C>T , CM000673.2:g.69648108C>T | GRCh38 |
| NC_000011.9:g.69462876C>T , CM000673.1:g.69462876C>T | GRCh37 |
| NC_000011.8:g.69172057C>T | NCBI36 |
| NG_007375.1:g.12004C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.689C>T MANE Select | ENSP00000227507.2:p.Thr230Ile | |
| ENST00000227507.2:c.689C>T | ENSP00000227507.2:p.Thr230Ile | |
| ENST00000536559.1:c.*109C>T | ENSP00000438482.1:n.*109C>T | |
| ENST00000542367.1:n.152C>T | ||
| ENST00000545484.1:n.395C>T | ||
| NM_053056.2:c.689C>T | NP_444284.1:p.Thr230Ile | |
| XM_006718653.2:c.713C>T | XP_006718716.1:p.Thr238Ile | |
| NM_053056.3:c.689C>T MANE Select | NP_444284.1:p.Thr230Ile |