Linked Data
dbSNP Id:
rs777561376
ExAC:
17:61574522 A / G
gnomAD v2:
17-61574522-A-G
gnomAD v4:
17-63497161-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63497161A>G , CM000679.2:g.63497161A>G | GRCh38 |
| NC_000017.10:g.61574522A>G , CM000679.1:g.61574522A>G | GRCh37 |
| NC_000017.9:g.58928254A>G | NCBI36 |
| NG_011648.1:g.25089A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.3716A>G MANE Select | ENSP00000290866.4:p.Asp1239Gly | |
| ENST00000290863.10:c.1994A>G | ENSP00000290863.6:p.Asp665Gly | |
| ENST00000290866.9:c.3716A>G | ENSP00000290866.4:p.Asp1239Gly | |
| ENST00000413513.7:c.1871A>G | ENSP00000392247.3:p.Asp624Gly | |
| ENST00000428043.5:c.*138A>G | ENSP00000397593.2:n.*138A>G | |
| ENST00000577418.5:n.726A>G | ||
| ENST00000577647.2:c.1969+176A>G | ENSP00000464149.1:n.1969+176A>G | |
| ENST00000578839.5:c.*1471A>G | ENSP00000462110.2:n.*1471A>G | |
| ENST00000579314.5:c.*1445A>G | ENSP00000462599.1:n.*1445A>G | |
| NM_000789.3:c.3716A>G | NP_000780.1:p.Asp1239Gly | |
| NM_001178057.1:c.1871A>G | NP_001171528.1:p.Asp624Gly | |
| NM_152830.2:c.1994A>G | NP_690043.1:p.Asp665Gly | |
| XM_005257110.1:c.3167A>G | XP_005257167.1:p.Asp1056Gly | |
| XM_006721737.2:c.2054A>G | XP_006721800.2:p.Asp685Gly | |
| XM_006721737.3:c.2054A>G | XP_006721800.2:p.Asp685Gly | |
| NM_000789.4:c.3716A>G MANE Select | NP_000780.1:p.Asp1239Gly | |
| NM_001178057.2:c.1871A>G | NP_001171528.1:p.Asp624Gly | |
| NM_152830.3:c.1994A>G | NP_690043.1:p.Asp665Gly | |
| NM_001382700.1:c.3149A>G | NP_001369629.1:p.Asp1050Gly | |
| NM_001382701.1:c.2864A>G | NP_001369630.1:p.Asp955Gly | |
| NM_001382702.1:c.1331A>G | NP_001369631.1:p.Asp444Gly | |
| NR_168483.1:n.2094A>G |