Linked Data
dbSNP Id:
rs773748671
ExAC:
17:29325694 A / G
gnomAD v2:
17-29325694-A-G
gnomAD v3:
17-30998676-A-G
gnomAD v4:
17-30998676-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30998676A>G , CM000679.2:g.30998676A>G | GRCh38 |
| NC_000017.10:g.29325694A>G , CM000679.1:g.29325694A>G | GRCh37 |
| NC_000017.9:g.26349820A>G | NCBI36 |
| NG_011701.1:g.32739A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328381.10:c.784A>G MANE Select | ENSP00000328340.5:p.Thr262Ala | |
| ENST00000324689.8:c.621A>G | ENSP00000323693.4:p.Gln207= | |
| ENST00000328381.9:c.784A>G | ENSP00000328340.5:p.Thr262Ala | |
| ENST00000443677.6:c.477A>G | ENSP00000411965.2:p.Gln159= | |
| ENST00000535306.6:c.849A>G | ENSP00000440470.2:p.Gln283= | |
| NM_001184992.1:c.849A>G | NP_001171921.1:p.Gln283= | |
| NM_032322.3:c.784A>G | NP_115698.3:p.Thr262Ala | |
| NM_197939.1:c.621A>G | NP_922921.1:p.Gln207= | |
| XM_005258043.3:c.241A>G | XP_005258100.1:p.Thr81Ala | |
| XM_006722138.2:c.463A>G | XP_006722201.1:p.Thr155Ala | |
| XM_017025223.1:c.241A>G | XP_016880712.1:p.Thr81Ala | |
| XM_024451000.1:c.241A>G | XP_024306768.1:p.Thr81Ala | |
| XM_024451001.1:c.241A>G | XP_024306769.1:p.Thr81Ala | |
| XR_002958076.1:n.1117A>G | ||
| XR_002958077.1:n.1052A>G | ||
| XR_002958078.1:n.889A>G | ||
| NM_032322.4:c.784A>G MANE Select | NP_115698.3:p.Thr262Ala | |
| NM_001184992.2:c.849A>G | NP_001171921.1:p.Gln283= | |
| NM_197939.2:c.621A>G | NP_922921.1:p.Gln207= |