Linked Data
ClinVar Variation Id:
775325
ClinVar RCV Id:
RCV000955461
dbSNP Id:
rs199710165
ExAC:
17:43315928 C / T
gnomAD v2:
17-43315928-C-T
gnomAD v3:
17-45238561-C-T
gnomAD v4:
17-45238561-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45238561C>T , CM000679.2:g.45238561C>T | GRCh38 |
| NC_000017.10:g.43315928C>T , CM000679.1:g.43315928C>T | GRCh37 |
| NC_000017.9:g.40671711C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587489.6:c.895-3C>T (FMNL1) | ENSP00000465474.2:n.895-3C>T | |
| ENST00000331495.8:c.895-3C>T (FMNL1) MANE Select | ENSP00000329219.2:n.895-3C>T | |
| ENST00000328118.7:c.64-18C>T (FMNL1) | ENSP00000327442.4:n.64-18C>T | |
| ENST00000331495.7:c.895-3C>T (FMNL1) | ENSP00000329219.2:n.895-3C>T | |
| ENST00000587856.1:n.598-3C>T (FMNL1) | ||
| ENST00000592006.5:n.714-3C>T (FMNL1) | ||
| NM_005892.3:c.895-3C>T (FMNL1) | NP_005883.2:n.895-3C>T | |
| XM_006722062.2:c.913-3C>T (FMNL1) | XP_006722125.1:n.913-3C>T | |
| XM_006722063.2:c.895-3C>T (FMNL1) | XP_006722126.1:n.895-3C>T | |
| XM_006722064.2:c.883-3C>T (FMNL1) | XP_006722127.1:n.883-3C>T | |
| XM_006722065.2:c.865-3C>T (FMNL1) | XP_006722128.1:n.865-3C>T | |
| XM_006722066.2:c.913-3C>T (FMNL1) | XP_006722129.1:n.913-3C>T | |
| XM_006722069.1:c.913-3C>T (FMNL1) | XP_006722132.1:n.913-3C>T | |
| XM_006722070.2:c.895-3C>T (FMNL1) | XP_006722133.1:n.895-3C>T | |
| XM_011525179.1:c.913-3C>T (FMNL1) | XP_011523481.1:n.913-3C>T | |
| XM_011525180.1:c.820-3C>T (FMNL1) | XP_011523482.1:n.820-3C>T | |
| XM_011525181.1:c.913-3C>T (FMNL1) | XP_011523483.1:n.913-3C>T | |
| XM_011525182.1:c.913-3C>T (FMNL1) | XP_011523484.1:n.913-3C>T | |
| XM_006722062.4:c.913-3C>T (FMNL1) | XP_006722125.1:n.913-3C>T | |
| XM_006722063.4:c.895-3C>T (FMNL1) | XP_006722126.1:n.895-3C>T | |
| XM_006722064.4:c.883-3C>T (FMNL1) | XP_006722127.1:n.883-3C>T | |
| XM_006722065.4:c.865-3C>T (FMNL1) | XP_006722128.1:n.865-3C>T | |
| XM_006722066.4:c.913-3C>T (FMNL1) | XP_006722129.1:n.913-3C>T | |
| XM_006722069.3:c.913-3C>T (FMNL1) | XP_006722132.1:n.913-3C>T | |
| XM_006722070.4:c.895-3C>T (FMNL1) | XP_006722133.1:n.895-3C>T | |
| XM_011525179.3:c.913-3C>T (FMNL1) | XP_011523481.1:n.913-3C>T | |
| XM_011525180.2:c.820-3C>T (FMNL1) | XP_011523482.1:n.820-3C>T | |
| XM_011525182.3:c.913-3C>T (FMNL1) | XP_011523484.1:n.913-3C>T | |
| XR_001752908.2:n.1439G>A (FMNL1-AS1) | ||
| NM_005892.4:c.895-3C>T (FMNL1) MANE Select | NP_005883.3:n.895-3C>T |