Linked Data
ClinVar Variation Id:
1338117
dbSNP Id:
rs149080883
ExAC:
17:41150800 G / A
gnomAD v2:
17-41150800-G-A
gnomAD v3:
17-42998783-G-A
gnomAD v4:
17-42998783-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42998783G>A , CM000679.2:g.42998783G>A | GRCh38 |
| NC_000017.10:g.41150800G>A , CM000679.1:g.41150800G>A | GRCh37 |
| NC_000017.9:g.38404326G>A | NCBI36 |
| NG_053099.1:g.5511G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253788.12:c.33G>A MANE Select | ENSP00000253788.5:p.Val11= | |
| ENST00000589913.6:c.33G>A | ENSP00000464813.1:p.Val11= | |
| ENST00000590864.2:c.33G>A | ENSP00000467939.2:p.Val11= | |
| ENST00000253788.9:c.33G>A | ENSP00000253788.4:p.Val11= | |
| ENST00000587478.1:n.88G>A | ||
| ENST00000588830.1:c.33G>A | ENSP00000468468.1:p.Val11= | |
| ENST00000589037.5:c.33G>A | ENSP00000467587.1:p.Val11= | |
| ENST00000589913.5:c.33G>A | ENSP00000464813.1:p.Val11= | |
| ENST00000593262.1:n.365G>A | ||
| NM_000988.3:c.33G>A | NP_000979.1:p.Val11= | |
| NM_000988.5:c.33G>A MANE Select | NP_000979.1:p.Val11= | |
| NM_001349921.1:c.33G>A | NP_001336850.1:p.Val11= | |
| NM_001349922.1:c.33G>A | NP_001336851.1:p.Val11= | |
| NR_146327.1:n.116G>A | ||
| NM_001349921.2:c.33G>A | NP_001336850.1:p.Val11= | |
| NM_001349922.2:c.33G>A | NP_001336851.1:p.Val11= | |
| NR_146327.2:n.88G>A |