Linked Data
dbSNP Id:
rs756375506
ExAC:
5:131729430 C / G
gnomAD v2:
5-131729430-C-G
gnomAD v3:
5-132393738-C-G
gnomAD v4:
5-132393738-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132393738C>G , CM000667.2:g.132393738C>G | GRCh38 |
| NC_000005.9:g.131729430C>G , CM000667.1:g.131729430C>G | GRCh37 |
| NC_000005.8:g.131757329C>G | NCBI36 |
| NG_008982.1:g.29030C>G | |
| NG_008982.2:g.29035C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1292-447C>G | ENSP00000388838.2:n.1292-447C>G | |
| ENST00000435065.7:c.1585C>G | ENSP00000402760.2:p.Leu529Val | |
| ENST00000448810.6:c.*365C>G | ENSP00000401860.2:n.*365C>G | |
| ENST00000685543.1:n.1654C>G | ||
| ENST00000686757.1:c.*677C>G | ENSP00000510721.1:n.*677C>G | |
| ENST00000686868.1:n.505C>G | ||
| ENST00000687740.1:n.4198C>G | ||
| ENST00000688151.1:n.2823C>G | ||
| ENST00000689271.1:c.1360C>G | ENSP00000510797.1:p.Leu454Val | |
| ENST00000690900.1:c.*677C>G | ENSP00000510703.1:n.*677C>G | |
| ENST00000692212.1:n.4653C>G | ||
| ENST00000692355.1:c.766C>G | ||
| ENST00000692413.1:c.1495C>G | ENSP00000509374.1:p.Leu499Val | |
| ENST00000692825.1:c.1581C>G | ENSP00000509447.1:n.1581C>G | |
| ENST00000693308.1:c.1561C>G | ENSP00000509770.1:p.Leu521Val | |
| ENST00000693763.1:n.2673C>G | ||
| ENST00000245407.8:c.1513C>G MANE Select | ENSP00000245407.3:p.Leu505Val | |
| ENST00000245407.7:c.1513C>G | ENSP00000245407.3:p.Leu505Val | |
| ENST00000435065.6:c.1585C>G | ENSP00000402760.2:p.Leu529Val | |
| ENST00000447841.5:c.357C>G | ||
| ENST00000448810.5:c.775C>G | ||
| ENST00000461013.5:n.8935C>G | ||
| ENST00000475308.1:n.2191C>G | ||
| NM_001308122.1:c.1585C>G | NP_001295051.1:p.Leu529Val | |
| NM_003060.3:c.1513C>G | NP_003051.1:p.Leu505Val | |
| XM_011543590.1:c.895C>G | XP_011541892.1:p.Leu299Val | |
| XR_948290.1:n.1639C>G | ||
| XM_011543590.2:c.895C>G | XP_011541892.1:p.Leu299Val | |
| XM_017009778.2:c.985C>G | XP_016865267.1:p.Leu329Val | |
| XR_001742215.1:n.1768C>G | ||
| XR_001742216.1:n.1787C>G | ||
| XR_427718.2:n.1873C>G | ||
| XR_948290.2:n.1639C>G | ||
| XR_948291.2:n.1867C>G | ||
| NM_003060.4:c.1513C>G MANE Select | NP_003051.1:p.Leu505Val | |
| NM_001308122.2:c.1585C>G | NP_001295051.1:p.Leu529Val |