Linked Data
ClinVar Variation Id:
529848
dbSNP Id:
rs573330330
ExAC:
5:131726554 C / G
gnomAD v2:
5-131726554-C-G
gnomAD v3:
5-132390862-C-G
gnomAD v4:
5-132390862-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390862C>G , CM000667.2:g.132390862C>G | GRCh38 |
| NC_000005.9:g.131726554C>G , CM000667.1:g.131726554C>G | GRCh37 |
| NC_000005.8:g.131754453C>G | NCBI36 |
| NG_008982.1:g.26154C>G | |
| NG_008982.2:g.26159C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1066C>G | ENSP00000388838.2:p.Leu356Val | |
| ENST00000435065.7:c.1297C>G | ENSP00000402760.2:p.Leu433Val | |
| ENST00000448810.6:c.*77C>G | ENSP00000401860.2:n.*77C>G | |
| ENST00000685543.1:n.1366C>G | ||
| ENST00000686757.1:c.*389C>G | ENSP00000510721.1:n.*389C>G | |
| ENST00000687740.1:n.3910C>G | ||
| ENST00000688151.1:n.2535C>G | ||
| ENST00000689271.1:c.1072C>G | ENSP00000510797.1:p.Leu358Val | |
| ENST00000690900.1:c.*389C>G | ENSP00000510703.1:n.*389C>G | |
| ENST00000692212.1:n.2837C>G | ||
| ENST00000692355.1:c.478C>G | ||
| ENST00000692413.1:c.1207C>G | ENSP00000509374.1:p.Leu403Val | |
| ENST00000692825.1:c.1293C>G | ENSP00000509447.1:n.1293C>G | |
| ENST00000693308.1:c.1273C>G | ENSP00000509770.1:p.Leu425Val | |
| ENST00000693763.1:n.2385C>G | ||
| ENST00000245407.8:c.1225C>G MANE Select | ENSP00000245407.3:p.Leu409Val | |
| ENST00000245407.7:c.1225C>G | ENSP00000245407.3:p.Leu409Val | |
| ENST00000435065.6:c.1297C>G | ENSP00000402760.2:p.Leu433Val | |
| ENST00000447841.5:c.112-1571C>G | ||
| ENST00000448810.5:c.487C>G | ||
| ENST00000461013.5:n.8647C>G | ||
| ENST00000475308.1:n.1903C>G | ||
| ENST00000479605.5:n.328C>G | ||
| NM_001308122.1:c.1297C>G | NP_001295051.1:p.Leu433Val | |
| NM_003060.3:c.1225C>G | NP_003051.1:p.Leu409Val | |
| XM_011543590.1:c.607C>G | XP_011541892.1:p.Leu203Val | |
| XR_427718.1:n.1585C>G | ||
| XR_948290.1:n.1394-1571C>G | ||
| XR_948291.1:n.1579C>G | ||
| XM_011543590.2:c.607C>G | XP_011541892.1:p.Leu203Val | |
| XM_017009778.2:c.697C>G | XP_016865267.1:p.Leu233Val | |
| XR_001742215.1:n.1480C>G | ||
| XR_001742216.1:n.1499C>G | ||
| XR_427718.2:n.1585C>G | ||
| XR_948290.2:n.1394-1571C>G | ||
| XR_948291.2:n.1579C>G | ||
| NM_003060.4:c.1225C>G MANE Select | NP_003051.1:p.Leu409Val | |
| NM_001308122.2:c.1297C>G | NP_001295051.1:p.Leu433Val |