Linked Data
dbSNP Id:
rs813218
gnomAD v2:
3-99592596-C-T
gnomAD v3:
3-99873752-C-T
gnomAD v4:
3-99873752-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.99873752C>T , CM000665.2:g.99873752C>T | GRCh38 |
| NC_000003.11:g.99592596C>T , CM000665.1:g.99592596C>T | GRCh37 |
| NC_000003.10:g.101075286C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477258.2:c.606-22682G>A (FILIP1L) MANE Select | ENSP00000417617.2:n.606-22682G>A | |
| ENST00000421999.8:c.64+55709C>T (CMSS1) MANE Select | ENSP00000410396.2:n.64+55709C>T | |
| ENST00000331335.9:c.606-22682G>A (FILIP1L) | ENSP00000327880.5:n.606-22682G>A | |
| ENST00000354552.7:c.606-22682G>A (FILIP1L) | ENSP00000346560.3:n.606-22682G>A | |
| ENST00000383694.3:c.-116+2320G>A (FILIP1L) | ENSP00000373192.2:n.-116+2320G>A | |
| ENST00000421999.6:c.64+55709C>T (CMSS1) | ENSP00000410396.2:n.64+55709C>T | |
| ENST00000463526.1:c.-114+55709C>T (CMSS1) | ENSP00000418855.1:n.-114+55709C>T | |
| ENST00000471562.1:c.-116+2320G>A (FILIP1L) | ENSP00000419642.1:n.-116+2320G>A | |
| ENST00000476723.1:n.102+2320G>A (FILIP1L) | ||
| ENST00000491299.5:c.64+55709C>T (CMSS1) | ENSP00000418609.1:n.64+55709C>T | |
| ENST00000495625.2:c.-116+536G>A (FILIP1L) | ENSP00000419874.2:n.-116+536G>A | |
| ENST00000496116.1:n.132+55709C>T (CMSS1) | ||
| NM_001042459.2:c.606-22682G>A (FILIP1L) | NP_001035924.1:n.606-22682G>A | |
| NM_001282793.1:c.-163+2320G>A (FILIP1L) | NP_001269722.1:n.-163+2320G>A | |
| NM_001282794.1:c.-116+2320G>A (FILIP1L) | NP_001269723.1:n.-116+2320G>A | |
| NM_014890.3:c.-116+2320G>A (FILIP1L) | NP_055705.2:n.-116+2320G>A | |
| NM_032359.3:c.64+55709C>T (CMSS1) | NP_115735.2:n.64+55709C>T | |
| NM_182909.3:c.606-22682G>A (FILIP1L) | NP_878913.2:n.606-22682G>A | |
| XM_006713486.1:c.-116+536G>A (FILIP1L) | XP_006713549.1:n.-116+536G>A | |
| XM_011512371.1:c.-32+2320G>A (FILIP1L) | XP_011510673.1:n.-32+2320G>A | |
| XM_006713486.2:c.-116+536G>A (FILIP1L) | XP_006713549.1:n.-116+536G>A | |
| XM_011512371.2:c.-32+2320G>A (FILIP1L) | XP_011510673.1:n.-32+2320G>A | |
| NM_032359.4:c.64+55709C>T (CMSS1) MANE Select | NP_115735.2:n.64+55709C>T | |
| NM_001370247.1:c.-116+536G>A (FILIP1L) | NP_001357176.1:n.-116+536G>A | |
| NM_001042459.3:c.606-22682G>A (FILIP1L) | NP_001035924.1:n.606-22682G>A | |
| NM_001282793.2:c.-163+2320G>A (FILIP1L) | NP_001269722.1:n.-163+2320G>A | |
| NM_001282794.2:c.-116+2320G>A (FILIP1L) | NP_001269723.1:n.-116+2320G>A | |
| NM_001387850.1:c.606-22682G>A (FILIP1L) MANE Select | NP_001374779.1:n.606-22682G>A | |
| NM_001387851.1:c.-116+2320G>A (FILIP1L) | NP_001374780.1:n.-116+2320G>A | |
| NM_001387852.1:c.606-43147G>A (FILIP1L) | NP_001374781.1:n.606-43147G>A | |
| NM_014890.4:c.-116+2320G>A (FILIP1L) | NP_055705.2:n.-116+2320G>A | |
| NM_182909.4:c.606-22682G>A (FILIP1L) | NP_878913.2:n.606-22682G>A | |
| NR_170715.1:n.102+2320G>A (FILIP1L) |