Linked Data
dbSNP Id:
rs1128127
ExAC:
22:24179132 G / A
gnomAD v2:
22-24179132-G-A
gnomAD v3:
22-23836945-G-A
gnomAD v4:
22-23836945-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23836945G>A , CM000684.2:g.23836945G>A | GRCh38 |
| NC_000022.10:g.24179132G>A , CM000684.1:g.24179132G>A | GRCh37 |
| NC_000022.9:g.22509132G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318109.12:c.632C>T (DERL3) MANE Select | ENSP00000315303.8:p.Ala211Val | |
| ENST00000644036.2:c.*2765G>A (SMARCB1) MANE Select | ENSP00000494049.2:n.*2765G>A | |
| ENST00000290730.11:n.1083C>T (DERL3) | ||
| ENST00000318109.11:c.632C>T (DERL3) | ENSP00000315303.7:p.Ala211Val | |
| ENST00000404056.1:c.*115C>T (DERL3) | ENSP00000384473.1:n.*115C>T | |
| ENST00000406855.7:c.614+119C>T (DERL3) | ENSP00000384744.3:n.614+119C>T | |
| ENST00000464034.5:n.161C>T (DERL3) | ||
| ENST00000464110.1:n.577C>T (DERL3) | ||
| ENST00000476077.1:c.*115C>T (DERL3) | ENSP00000419399.1:n.*115C>T | |
| ENST00000488272.5:n.248C>T (DERL3) | ||
| ENST00000493596.5:n.117+119C>T (DERL3) | ||
| NM_001002862.2:c.632C>T (DERL3) | NP_001002862.1:p.Ala211Val | |
| NM_001135751.1:c.614+119C>T (DERL3) | NP_001129223.1:n.614+119C>T | |
| NM_198440.3:c.*115C>T (DERL3) | NP_940842.2:n.*115C>T | |
| XM_011530503.1:c.746C>T (DERL3) | XP_011528805.1:p.Ala249Val | |
| XM_011530504.1:c.611+119C>T (DERL3) | XP_011528806.1:n.611+119C>T | |
| XM_011530505.1:c.629C>T (DERL3) | XP_011528807.1:p.Ala210Val | |
| XM_011530506.1:c.614+119C>T (DERL3) | XP_011528808.1:n.614+119C>T | |
| XM_011530507.1:c.554+119C>T (DERL3) | XP_011528809.1:n.554+119C>T | |
| NM_001363072.1:c.614+119C>T (DERL3) | NP_001350001.1:n.614+119C>T | |
| XM_011530505.3:c.629C>T (DERL3) | XP_011528807.1:p.Ala210Val | |
| XM_017029078.2:c.824C>T (DERL3) | XP_016884567.1:p.Ala275Val | |
| XM_017029079.2:c.821C>T (DERL3) | XP_016884568.1:p.Ala274Val | |
| XM_017029080.2:c.764C>T (DERL3) | XP_016884569.1:p.Ala255Val | |
| XM_017029082.2:c.392+119C>T (DERL3) | XP_016884571.1:n.392+119C>T | |
| NM_001002862.3:c.632C>T (DERL3) MANE Select | NP_001002862.1:p.Ala211Val | |
| NM_001007468.3:c.*2765G>A (SMARCB1) | NP_001007469.1:n.*2765G>A | |
| NM_001135751.2:c.614+119C>T (DERL3) | NP_001129223.1:n.614+119C>T | |
| NM_001317946.2:c.*2765G>A (SMARCB1) | NP_001304875.1:n.*2765G>A | |
| NM_001362877.2:c.*2765G>A (SMARCB1) | NP_001349806.1:n.*2765G>A | |
| NM_001363072.2:c.614+119C>T (DERL3) | NP_001350001.1:n.614+119C>T | |
| NM_003073.5:c.*2765G>A (SMARCB1) MANE Select | NP_003064.2:n.*2765G>A | |
| NM_198440.4:c.*115C>T (DERL3) | NP_940842.2:n.*115C>T |