Linked Data
ClinVar Variation Id:
2095265
ClinVar RCV Id:
RCV003013751
dbSNP Id:
rs1402202023
gnomAD v4:
17-60150092-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.60150092G>T , CM000679.2:g.60150092G>T | GRCh38 |
| NC_000017.10:g.58227453G>T , CM000679.1:g.58227453G>T | GRCh37 |
| NC_000017.9:g.55582235G>T | NCBI36 |
| NG_012050.1:g.5152G>T | |
| NG_012050.2:g.5152G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300900.9:c.58G>T MANE Select | ENSP00000300900.3:p.Glu20Ter | |
| ENST00000300900.8:c.58G>T | ENSP00000300900.3:p.Glu20Ter | |
| ENST00000585705.5:n.151G>T | ||
| ENST00000586876.1:c.58G>T | ENSP00000467465.1:p.Glu20Ter | |
| ENST00000591725.1:c.-301G>T | ENSP00000466964.1:n.-301G>T | |
| NM_000717.3:c.58G>T | NP_000708.1:p.Glu20Ter | |
| XM_005257639.1:c.58G>T | XP_005257696.1:p.Glu20Ter | |
| NM_000717.4:c.58G>T | NP_000708.1:p.Glu20Ter | |
| NR_137422.1:n.157G>T | ||
| XM_005257639.3:c.58G>T | XP_005257696.1:p.Glu20Ter | |
| XR_001752604.2:n.151G>T | ||
| XR_001752605.2:n.151G>T | ||
| XR_001752606.2:n.151G>T | ||
| XR_001752607.2:n.151G>T | ||
| XR_001752608.2:n.151G>T | ||
| XR_001752609.2:n.151G>T | ||
| XR_001752610.2:n.151G>T | ||
| NM_000717.5:c.58G>T MANE Select | NP_000708.1:p.Glu20Ter | |
| NR_137422.2:n.120G>T |