Linked Data
ClinVar Variation Id:
1532099
ClinVar RCV Id:
RCV002106883
dbSNP Id:
rs1444305170
gnomAD v2:
3-58414324-G-A
gnomAD v4:
3-58428597-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58428597G>A , CM000665.2:g.58428597G>A | GRCh38 |
| NC_000003.11:g.58414324G>A , CM000665.1:g.58414324G>A | GRCh37 |
| NC_000003.10:g.58389364G>A | NCBI36 |
| NG_016860.1:g.10256C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302746.11:c.810C>T MANE Select | ENSP00000307241.6:p.Thr270= | |
| ENST00000302746.10:c.810C>T | ENSP00000307241.6:p.Thr270= | |
| ENST00000383714.8:c.756C>T | ENSP00000373220.4:p.Thr252= | |
| ENST00000461692.5:n.923C>T | ||
| ENST00000469364.5:c.*196C>T | ENSP00000419580.1:n.*196C>T | |
| ENST00000474765.1:c.756C>T | ENSP00000418448.1:p.Thr252= | |
| ENST00000479945.1:n.3543C>T | ||
| ENST00000485460.5:c.756C>T | ENSP00000417267.1:p.Thr252= | |
| NM_000925.3:c.810C>T | NP_000916.2:p.Thr270= | |
| NM_001173468.1:c.756C>T | NP_001166939.1:p.Thr252= | |
| NM_001315536.1:c.756C>T | NP_001302465.1:p.Thr252= | |
| NR_033384.1:n.923C>T | ||
| NM_000925.4:c.810C>T MANE Select | NP_000916.2:p.Thr270= | |
| NM_001173468.2:c.756C>T | NP_001166939.1:p.Thr252= | |
| NM_001315536.2:c.756C>T | NP_001302465.1:p.Thr252= | |
| NR_033384.2:n.916C>T |