Linked Data
ClinVar Variation Id:
529856
dbSNP Id:
rs780129415
ExAC:
5:131729432 C / T
gnomAD v2:
5-131729432-C-T
gnomAD v3:
5-132393740-C-T
gnomAD v4:
5-132393740-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132393740C>T , CM000667.2:g.132393740C>T | GRCh38 |
| NC_000005.9:g.131729432C>T , CM000667.1:g.131729432C>T | GRCh37 |
| NC_000005.8:g.131757331C>T | NCBI36 |
| NG_008982.1:g.29032C>T | |
| NG_008982.2:g.29037C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1292-445C>T | ENSP00000388838.2:n.1292-445C>T | |
| ENST00000435065.7:c.1587C>T | ENSP00000402760.2:p.Leu529= | |
| ENST00000448810.6:c.*367C>T | ENSP00000401860.2:n.*367C>T | |
| ENST00000685543.1:n.1656C>T | ||
| ENST00000686757.1:c.*679C>T | ENSP00000510721.1:n.*679C>T | |
| ENST00000686868.1:n.507C>T | ||
| ENST00000687740.1:n.4200C>T | ||
| ENST00000688151.1:n.2825C>T | ||
| ENST00000689271.1:c.1362C>T | ENSP00000510797.1:p.Leu454= | |
| ENST00000690900.1:c.*679C>T | ENSP00000510703.1:n.*679C>T | |
| ENST00000692212.1:n.4655C>T | ||
| ENST00000692355.1:c.768C>T | ||
| ENST00000692413.1:c.1497C>T | ENSP00000509374.1:p.Leu499= | |
| ENST00000692825.1:c.1583C>T | ENSP00000509447.1:n.1583C>T | |
| ENST00000693308.1:c.1563C>T | ENSP00000509770.1:p.Leu521= | |
| ENST00000693763.1:n.2675C>T | ||
| ENST00000245407.8:c.1515C>T MANE Select | ENSP00000245407.3:p.Leu505= | |
| ENST00000245407.7:c.1515C>T | ENSP00000245407.3:p.Leu505= | |
| ENST00000435065.6:c.1587C>T | ENSP00000402760.2:p.Leu529= | |
| ENST00000447841.5:c.359C>T | ||
| ENST00000448810.5:c.777C>T | ||
| ENST00000461013.5:n.8937C>T | ||
| ENST00000475308.1:n.2193C>T | ||
| NM_001308122.1:c.1587C>T | NP_001295051.1:p.Leu529= | |
| NM_003060.3:c.1515C>T | NP_003051.1:p.Leu505= | |
| XM_011543590.1:c.897C>T | XP_011541892.1:p.Leu299= | |
| XR_948290.1:n.1641C>T | ||
| XM_011543590.2:c.897C>T | XP_011541892.1:p.Leu299= | |
| XM_017009778.2:c.987C>T | XP_016865267.1:p.Leu329= | |
| XR_001742215.1:n.1770C>T | ||
| XR_001742216.1:n.1789C>T | ||
| XR_427718.2:n.1875C>T | ||
| XR_948290.2:n.1641C>T | ||
| XR_948291.2:n.1869C>T | ||
| NM_003060.4:c.1515C>T MANE Select | NP_003051.1:p.Leu505= | |
| NM_001308122.2:c.1587C>T | NP_001295051.1:p.Leu529= |