Linked Data
dbSNP Id:
rs750528508
ExAC:
16:47730398 A / G
gnomAD v2:
16-47730398-A-G
gnomAD v3:
16-47696487-A-G
gnomAD v4:
16-47696487-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.47696487A>G , CM000678.2:g.47696487A>G | GRCh38 |
| NC_000016.9:g.47730398A>G , CM000678.1:g.47730398A>G | GRCh37 |
| NC_000016.8:g.46287899A>G | NCBI36 |
| NG_016598.1:g.240189A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696809.1:c.*1576A>G | ENSP00000512887.1:n.*1576A>G | |
| ENST00000699276.1:c.*630A>G | ENSP00000514257.1:n.*630A>G | |
| ENST00000323584.10:c.3002A>G MANE Select | ENSP00000313504.5:p.Glu1001Gly | |
| ENST00000299167.12:c.3002A>G | ENSP00000299167.8:p.Glu1001Gly | |
| ENST00000323584.9:c.3002A>G | ENSP00000313504.5:p.Glu1001Gly | |
| ENST00000564711.2:c.16A>G | ||
| ENST00000566044.5:c.2981A>G | ENSP00000456729.1:p.Glu994Gly | |
| ENST00000566319.2:n.1818A>G | ||
| NM_000293.2:c.3002A>G | NP_000284.1:p.Glu1001Gly | |
| NM_001031835.2:c.2981A>G | NP_001027005.1:p.Glu994Gly | |
| XM_005255983.3:c.3002A>G | XP_005256040.1:p.Glu1001Gly | |
| XM_005255984.3:c.2981A>G | XP_005256041.1:p.Glu994Gly | |
| XM_011523107.1:c.1580A>G | XP_011521409.1:p.Glu527Gly | |
| NM_001363837.1:c.3002A>G | NP_001350766.1:p.Glu1001Gly | |
| XM_005255983.4:c.3002A>G | XP_005256040.1:p.Glu1001Gly | |
| XM_005255984.4:c.2981A>G | XP_005256041.1:p.Glu994Gly | |
| XM_017023282.1:c.1889A>G | XP_016878771.1:p.Glu630Gly | |
| XM_017023283.1:c.1580A>G | XP_016878772.1:p.Glu527Gly | |
| XM_017023284.1:c.1580A>G | XP_016878773.1:p.Glu527Gly | |
| XR_001751913.1:n.2926A>G | ||
| NM_000293.3:c.3002A>G MANE Select | NP_000284.1:p.Glu1001Gly | |
| NM_001031835.3:c.2981A>G | NP_001027005.1:p.Glu994Gly |