Linked Data
ClinVar Variation Id:
1404069
ClinVar RCV Id:
RCV001927636
dbSNP Id:
rs2808002
ExAC:
6:3154939 T / A
gnomAD v2:
6-3154939-T-A
gnomAD v3:
6-3154705-T-A
gnomAD v4:
6-3154705-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154705T>A , CM000668.2:g.3154705T>A | GRCh38 |
| NC_000006.11:g.3154939T>A , CM000668.1:g.3154939T>A | GRCh37 |
| NC_000006.10:g.3099938T>A | NCBI36 |
| NG_042223.1:g.7845A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.496A>T MANE Select | ENSP00000369703.2:p.Thr166Ser | |
| ENST00000679400.1:n.552A>T | ||
| ENST00000679907.1:n.884A>T | ||
| ENST00000680036.1:n.1278A>T | ||
| ENST00000680967.1:n.1586A>T | ||
| ENST00000333628.3:c.496A>T | ENSP00000369703.2:p.Thr166Ser | |
| ENST00000489942.1:n.691A>T | ||
| NM_001069.2:c.496A>T | NP_001060.1:p.Thr166Ser | |
| NM_001310315.1:c.241A>T | NP_001297244.1:p.Thr81Ser | |
| NM_001069.3:c.496A>T MANE Select | NP_001060.1:p.Thr166Ser | |
| NM_001310315.2:c.241A>T | NP_001297244.1:p.Thr81Ser |