Linked Data
ClinVar Variation Id:
25420
dbSNP Id:
rs11568514
ExAC:
5:131728202 T / G
gnomAD v2:
5-131728202-T-G
gnomAD v3:
5-132392510-T-G
gnomAD v4:
5-132392510-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132392510T>G , CM000667.2:g.132392510T>G | GRCh38 |
| NC_000005.9:g.131728202T>G , CM000667.1:g.131728202T>G | GRCh37 |
| NC_000005.8:g.131756101T>G | NCBI36 |
| NG_008982.1:g.27802T>G | |
| NG_008982.2:g.27807T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.1186T>G | ENSP00000388838.2:p.Tyr396Asp | |
| ENST00000435065.7:c.1417T>G | ENSP00000402760.2:p.Tyr473Asp | |
| ENST00000448810.6:c.*197T>G | ENSP00000401860.2:n.*197T>G | |
| ENST00000685543.1:n.1486T>G | ||
| ENST00000686757.1:c.*509T>G | ENSP00000510721.1:n.*509T>G | |
| ENST00000687740.1:n.4030T>G | ||
| ENST00000688151.1:n.2655T>G | ||
| ENST00000689271.1:c.1192T>G | ENSP00000510797.1:p.Tyr398Asp | |
| ENST00000690900.1:c.*509T>G | ENSP00000510703.1:n.*509T>G | |
| ENST00000692212.1:n.4485T>G | ||
| ENST00000692355.1:c.598T>G | ||
| ENST00000692413.1:c.1327T>G | ENSP00000509374.1:p.Tyr443Asp | |
| ENST00000692825.1:c.1413T>G | ENSP00000509447.1:n.1413T>G | |
| ENST00000693308.1:c.1393T>G | ENSP00000509770.1:p.Tyr465Asp | |
| ENST00000693763.1:n.2505T>G | ||
| ENST00000245407.8:c.1345T>G MANE Select | ENSP00000245407.3:p.Tyr449Asp | |
| ENST00000245407.7:c.1345T>G | ENSP00000245407.3:p.Tyr449Asp | |
| ENST00000435065.6:c.1417T>G | ENSP00000402760.2:p.Tyr473Asp | |
| ENST00000447841.5:c.189T>G | ||
| ENST00000448810.5:c.607T>G | ||
| ENST00000461013.5:n.8767T>G | ||
| ENST00000475308.1:n.2023T>G | ||
| ENST00000479605.5:n.448T>G | ||
| NM_001308122.1:c.1417T>G | NP_001295051.1:p.Tyr473Asp | |
| NM_003060.3:c.1345T>G | NP_003051.1:p.Tyr449Asp | |
| XM_011543590.1:c.727T>G | XP_011541892.1:p.Tyr243Asp | |
| XR_948290.1:n.1471T>G | ||
| XM_011543590.2:c.727T>G | XP_011541892.1:p.Tyr243Asp | |
| XM_017009778.2:c.817T>G | XP_016865267.1:p.Tyr273Asp | |
| XR_001742215.1:n.1600T>G | ||
| XR_001742216.1:n.1619T>G | ||
| XR_427718.2:n.1705T>G | ||
| XR_948290.2:n.1471T>G | ||
| XR_948291.2:n.1699T>G | ||
| NM_003060.4:c.1345T>G MANE Select | NP_003051.1:p.Tyr449Asp | |
| NM_001308122.2:c.1417T>G | NP_001295051.1:p.Tyr473Asp |