Linked Data
dbSNP Id:
rs763424726
ExAC:
5:131729468 C / T
gnomAD v2:
5-131729468-C-T
gnomAD v4:
5-132393776-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132393776C>T , CM000667.2:g.132393776C>T | GRCh38 |
| NC_000005.9:g.131729468C>T , CM000667.1:g.131729468C>T | GRCh37 |
| NC_000005.8:g.131757367C>T | NCBI36 |
| NG_008982.1:g.29068C>T | |
| NG_008982.2:g.29073C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1292-409C>T | ENSP00000388838.2:n.1292-409C>T | |
| ENST00000435065.7:c.1623C>T | ENSP00000402760.2:p.Leu541= | |
| ENST00000448810.6:c.*403C>T | ENSP00000401860.2:n.*403C>T | |
| ENST00000685543.1:n.1692C>T | ||
| ENST00000686757.1:c.*715C>T | ENSP00000510721.1:n.*715C>T | |
| ENST00000686868.1:n.543C>T | ||
| ENST00000687740.1:n.4236C>T | ||
| ENST00000688151.1:n.2861C>T | ||
| ENST00000689271.1:c.1398C>T | ENSP00000510797.1:p.Leu466= | |
| ENST00000690900.1:c.*715C>T | ENSP00000510703.1:n.*715C>T | |
| ENST00000692212.1:n.4691C>T | ||
| ENST00000692355.1:c.804C>T | ||
| ENST00000692413.1:c.1533C>T | ENSP00000509374.1:p.Leu511= | |
| ENST00000692825.1:c.1619C>T | ENSP00000509447.1:n.1619C>T | |
| ENST00000693308.1:c.1599C>T | ENSP00000509770.1:p.Leu533= | |
| ENST00000693763.1:n.2711C>T | ||
| ENST00000245407.8:c.1551C>T MANE Select | ENSP00000245407.3:p.Leu517= | |
| ENST00000245407.7:c.1551C>T | ENSP00000245407.3:p.Leu517= | |
| ENST00000435065.6:c.1623C>T | ENSP00000402760.2:p.Leu541= | |
| ENST00000447841.5:c.395C>T | ||
| ENST00000448810.5:c.813C>T | ||
| ENST00000461013.5:n.8973C>T | ||
| ENST00000475308.1:n.2229C>T | ||
| NM_001308122.1:c.1623C>T | NP_001295051.1:p.Leu541= | |
| NM_003060.3:c.1551C>T | NP_003051.1:p.Leu517= | |
| XM_011543590.1:c.933C>T | XP_011541892.1:p.Leu311= | |
| XR_948290.1:n.1677C>T | ||
| XM_011543590.2:c.933C>T | XP_011541892.1:p.Leu311= | |
| XM_017009778.2:c.1023C>T | XP_016865267.1:p.Leu341= | |
| XR_001742215.1:n.1806C>T | ||
| XR_001742216.1:n.1825C>T | ||
| XR_427718.2:n.1911C>T | ||
| XR_948290.2:n.1677C>T | ||
| XR_948291.2:n.1905C>T | ||
| NM_003060.4:c.1551C>T MANE Select | NP_003051.1:p.Leu517= | |
| NM_001308122.2:c.1623C>T | NP_001295051.1:p.Leu541= |