Linked Data
ClinVar Variation Id:
574461
dbSNP Id:
rs780591287
ExAC:
5:131726584 C / G
gnomAD v2:
5-131726584-C-G
gnomAD v3:
5-132390892-C-G
gnomAD v4:
5-132390892-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390892C>G , CM000667.2:g.132390892C>G | GRCh38 |
| NC_000005.9:g.131726584C>G , CM000667.1:g.131726584C>G | GRCh37 |
| NC_000005.8:g.131754483C>G | NCBI36 |
| NG_008982.1:g.26184C>G | |
| NG_008982.2:g.26189C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1096C>G | ENSP00000388838.2:p.Leu366Val | |
| ENST00000435065.7:c.1327C>G | ENSP00000402760.2:p.Leu443Val | |
| ENST00000448810.6:c.*107C>G | ENSP00000401860.2:n.*107C>G | |
| ENST00000685543.1:n.1396C>G | ||
| ENST00000686757.1:c.*419C>G | ENSP00000510721.1:n.*419C>G | |
| ENST00000687740.1:n.3940C>G | ||
| ENST00000688151.1:n.2565C>G | ||
| ENST00000689271.1:c.1102C>G | ENSP00000510797.1:p.Leu368Val | |
| ENST00000690900.1:c.*419C>G | ENSP00000510703.1:n.*419C>G | |
| ENST00000692212.1:n.2867C>G | ||
| ENST00000692355.1:c.508C>G | ||
| ENST00000692413.1:c.1237C>G | ENSP00000509374.1:p.Leu413Val | |
| ENST00000692825.1:c.1323C>G | ENSP00000509447.1:n.1323C>G | |
| ENST00000693308.1:c.1303C>G | ENSP00000509770.1:p.Leu435Val | |
| ENST00000693763.1:n.2415C>G | ||
| ENST00000245407.8:c.1255C>G MANE Select | ENSP00000245407.3:p.Leu419Val | |
| ENST00000245407.7:c.1255C>G | ENSP00000245407.3:p.Leu419Val | |
| ENST00000435065.6:c.1327C>G | ENSP00000402760.2:p.Leu443Val | |
| ENST00000447841.5:c.112-1541C>G | ||
| ENST00000448810.5:c.517C>G | ||
| ENST00000461013.5:n.8677C>G | ||
| ENST00000475308.1:n.1933C>G | ||
| ENST00000479605.5:n.358C>G | ||
| NM_001308122.1:c.1327C>G | NP_001295051.1:p.Leu443Val | |
| NM_003060.3:c.1255C>G | NP_003051.1:p.Leu419Val | |
| XM_011543590.1:c.637C>G | XP_011541892.1:p.Leu213Val | |
| XR_427718.1:n.1615C>G | ||
| XR_948290.1:n.1394-1541C>G | ||
| XR_948291.1:n.1609C>G | ||
| XM_011543590.2:c.637C>G | XP_011541892.1:p.Leu213Val | |
| XM_017009778.2:c.727C>G | XP_016865267.1:p.Leu243Val | |
| XR_001742215.1:n.1510C>G | ||
| XR_001742216.1:n.1529C>G | ||
| XR_427718.2:n.1615C>G | ||
| XR_948290.2:n.1394-1541C>G | ||
| XR_948291.2:n.1609C>G | ||
| NM_003060.4:c.1255C>G MANE Select | NP_003051.1:p.Leu419Val | |
| NM_001308122.2:c.1327C>G | NP_001295051.1:p.Leu443Val |