Linked Data
dbSNP Id:
rs781769416
ExAC:
17:61574294 G / A
gnomAD v2:
17-61574294-G-A
gnomAD v4:
17-63496933-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63496933G>A , CM000679.2:g.63496933G>A | GRCh38 |
| NC_000017.10:g.61574294G>A , CM000679.1:g.61574294G>A | GRCh37 |
| NC_000017.9:g.58928026G>A | NCBI36 |
| NG_011648.1:g.24861G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.3639G>A MANE Select | ENSP00000290866.4:p.Glu1213= | |
| ENST00000290863.10:c.1917G>A | ENSP00000290863.6:p.Glu639= | |
| ENST00000290866.9:c.3639G>A | ENSP00000290866.4:p.Glu1213= | |
| ENST00000413513.7:c.1794G>A | ENSP00000392247.3:p.Glu598= | |
| ENST00000428043.5:c.3639G>A | ENSP00000397593.2:p.Glu1213= | |
| ENST00000577418.5:n.649G>A | ||
| ENST00000577647.2:c.1917G>A | ENSP00000464149.1:p.Glu639= | |
| ENST00000578839.5:c.*1394G>A | ENSP00000462110.2:n.*1394G>A | |
| ENST00000579314.5:c.*1368G>A | ENSP00000462599.1:n.*1368G>A | |
| ENST00000579409.1:c.326G>A | ||
| ENST00000582244.1:n.513G>A | ||
| NM_000789.3:c.3639G>A | NP_000780.1:p.Glu1213= | |
| NM_001178057.1:c.1794G>A | NP_001171528.1:p.Glu598= | |
| NM_152830.2:c.1917G>A | NP_690043.1:p.Glu639= | |
| XM_005257110.1:c.3090G>A | XP_005257167.1:p.Glu1030= | |
| XM_006721737.2:c.1977G>A | XP_006721800.2:p.Glu659= | |
| XM_006721737.3:c.1977G>A | XP_006721800.2:p.Glu659= | |
| NM_000789.4:c.3639G>A MANE Select | NP_000780.1:p.Glu1213= | |
| NM_001178057.2:c.1794G>A | NP_001171528.1:p.Glu598= | |
| NM_152830.3:c.1917G>A | NP_690043.1:p.Glu639= | |
| NM_001382700.1:c.3072G>A | NP_001369629.1:p.Glu1024= | |
| NM_001382701.1:c.2787G>A | NP_001369630.1:p.Glu929= | |
| NM_001382702.1:c.1254G>A | NP_001369631.1:p.Glu418= | |
| NR_168483.1:n.2017G>A |