Linked Data
ClinVar Variation Id:
1720369
ClinVar RCV Id:
RCV002298128
dbSNP Id:
rs1762599981
gnomAD v3:
6-3154560-G-A
gnomAD v4:
6-3154560-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154560G>A , CM000668.2:g.3154560G>A | GRCh38 |
| NC_000006.11:g.3154794G>A , CM000668.1:g.3154794G>A | GRCh37 |
| NC_000006.10:g.3099793G>A | NCBI36 |
| NG_042223.1:g.7990C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.641C>T MANE Select | ENSP00000369703.2:p.Thr214Ile | |
| ENST00000679400.1:n.697C>T | ||
| ENST00000679907.1:n.1029C>T | ||
| ENST00000680036.1:n.1423C>T | ||
| ENST00000680967.1:n.1731C>T | ||
| ENST00000333628.3:c.641C>T | ENSP00000369703.2:p.Thr214Ile | |
| NM_001069.2:c.641C>T | NP_001060.1:p.Thr214Ile | |
| NM_001310315.1:c.386C>T | NP_001297244.1:p.Thr129Ile | |
| NM_001069.3:c.641C>T MANE Select | NP_001060.1:p.Thr214Ile | |
| NM_001310315.2:c.386C>T | NP_001297244.1:p.Thr129Ile |