Linked Data
ClinVar Variation Id:
668663
dbSNP Id:
rs769114259
ExAC:
5:131726610 G / A
gnomAD v2:
5-131726610-G-A
gnomAD v3:
5-132390918-G-A
gnomAD v4:
5-132390918-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390918G>A , CM000667.2:g.132390918G>A | GRCh38 |
| NC_000005.9:g.131726610G>A , CM000667.1:g.131726610G>A | GRCh37 |
| NC_000005.8:g.131754509G>A | NCBI36 |
| NG_008982.1:g.26210G>A | |
| NG_008982.2:g.26215G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1108+14G>A | ENSP00000388838.2:n.1108+14G>A | |
| ENST00000435065.7:c.1339+14G>A | ENSP00000402760.2:n.1339+14G>A | |
| ENST00000448810.6:c.*119+14G>A | ENSP00000401860.2:n.*119+14G>A | |
| ENST00000685543.1:n.1408+14G>A | ||
| ENST00000686757.1:c.*431+14G>A | ENSP00000510721.1:n.*431+14G>A | |
| ENST00000687740.1:n.3952+14G>A | ||
| ENST00000688151.1:n.2577+14G>A | ||
| ENST00000689271.1:c.1114+14G>A | ENSP00000510797.1:n.1114+14G>A | |
| ENST00000690900.1:c.*431+14G>A | ENSP00000510703.1:n.*431+14G>A | |
| ENST00000692212.1:n.2893G>A | ||
| ENST00000692355.1:c.520+14G>A | ||
| ENST00000692413.1:c.1249+14G>A | ENSP00000509374.1:n.1249+14G>A | |
| ENST00000692825.1:c.1335+14G>A | ENSP00000509447.1:n.1335+14G>A | |
| ENST00000693308.1:c.1315+14G>A | ENSP00000509770.1:n.1315+14G>A | |
| ENST00000693763.1:n.2427+14G>A | ||
| ENST00000245407.8:c.1267+14G>A MANE Select | ENSP00000245407.3:n.1267+14G>A | |
| ENST00000245407.7:c.1267+14G>A | ENSP00000245407.3:n.1267+14G>A | |
| ENST00000435065.6:c.1339+14G>A | ENSP00000402760.2:n.1339+14G>A | |
| ENST00000447841.5:c.112-1515G>A | ||
| ENST00000448810.5:c.529+14G>A | ||
| ENST00000461013.5:n.8689+14G>A | ||
| ENST00000475308.1:n.1945+14G>A | ||
| ENST00000479605.5:n.370+14G>A | ||
| NM_001308122.1:c.1339+14G>A | NP_001295051.1:n.1339+14G>A | |
| NM_003060.3:c.1267+14G>A | NP_003051.1:n.1267+14G>A | |
| XM_011543590.1:c.649+14G>A | XP_011541892.1:n.649+14G>A | |
| XR_427718.1:n.1627+14G>A | ||
| XR_948290.1:n.1394-1515G>A | ||
| XR_948291.1:n.1621+14G>A | ||
| XM_011543590.2:c.649+14G>A | XP_011541892.1:n.649+14G>A | |
| XM_017009778.2:c.739+14G>A | XP_016865267.1:n.739+14G>A | |
| XR_001742215.1:n.1522+14G>A | ||
| XR_001742216.1:n.1541+14G>A | ||
| XR_427718.2:n.1627+14G>A | ||
| XR_948290.2:n.1394-1515G>A | ||
| XR_948291.2:n.1621+14G>A | ||
| NM_003060.4:c.1267+14G>A MANE Select | NP_003051.1:n.1267+14G>A | |
| NM_001308122.2:c.1339+14G>A | NP_001295051.1:n.1339+14G>A |