Linked Data
ClinVar Variation Id:
2072727
ClinVar RCV Id:
RCV002949637
dbSNP Id:
rs760883941
ExAC:
16:47730399 G / A
gnomAD v2:
16-47730399-G-A
gnomAD v3:
16-47696488-G-A
gnomAD v4:
16-47696488-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.47696488G>A , CM000678.2:g.47696488G>A | GRCh38 |
| NC_000016.9:g.47730399G>A , CM000678.1:g.47730399G>A | GRCh37 |
| NC_000016.8:g.46287900G>A | NCBI36 |
| NG_016598.1:g.240190G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696809.1:c.*1577G>A | ENSP00000512887.1:n.*1577G>A | |
| ENST00000699276.1:c.*631G>A | ENSP00000514257.1:n.*631G>A | |
| ENST00000323584.10:c.3003G>A MANE Select | ENSP00000313504.5:p.Glu1001= | |
| ENST00000299167.12:c.3003G>A | ENSP00000299167.8:p.Glu1001= | |
| ENST00000323584.9:c.3003G>A | ENSP00000313504.5:p.Glu1001= | |
| ENST00000564711.2:c.17G>A | ||
| ENST00000566044.5:c.2982G>A | ENSP00000456729.1:p.Glu994= | |
| ENST00000566319.2:n.1819G>A | ||
| NM_000293.2:c.3003G>A | NP_000284.1:p.Glu1001= | |
| NM_001031835.2:c.2982G>A | NP_001027005.1:p.Glu994= | |
| XM_005255983.3:c.3003G>A | XP_005256040.1:p.Glu1001= | |
| XM_005255984.3:c.2982G>A | XP_005256041.1:p.Glu994= | |
| XM_011523107.1:c.1581G>A | XP_011521409.1:p.Glu527= | |
| NM_001363837.1:c.3003G>A | NP_001350766.1:p.Glu1001= | |
| XM_005255983.4:c.3003G>A | XP_005256040.1:p.Glu1001= | |
| XM_005255984.4:c.2982G>A | XP_005256041.1:p.Glu994= | |
| XM_017023282.1:c.1890G>A | XP_016878771.1:p.Glu630= | |
| XM_017023283.1:c.1581G>A | XP_016878772.1:p.Glu527= | |
| XM_017023284.1:c.1581G>A | XP_016878773.1:p.Glu527= | |
| XR_001751913.1:n.2927G>A | ||
| NM_000293.3:c.3003G>A MANE Select | NP_000284.1:p.Glu1001= | |
| NM_001031835.3:c.2982G>A | NP_001027005.1:p.Glu994= |