Revel Score:
ENST00000300525
0.042
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51572254 (AFR)
Genomes Max Group AF
0.51540421 (AFR)
Exomes Max Group AF
0.50732823 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45641777A>G , CM000679.2:g.45641777A>G | GRCh38 |
| NC_000017.10:g.43719143A>G , CM000679.1:g.43719143A>G | GRCh37 |
| NC_000017.9:g.41074926A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578000.5:n.1935A>G (LINC02210) | ||
| ENST00000580655.1:n.1416A>G (LINC02210) | ||
| ENST00000585677.1:n.546+2257A>G (LINC02210) | ||
| ENST00000586362.1:n.202-4124A>G (LINC02210) | ||
| ENST00000591271.5:n.423-4124A>G (LINC02210) | ||
| ENST00000592428.1:n.151+1322A>G (LINC02210) | ||
| ENST00000587305.1:n.371+11619A>G (LINC02210-CRHR1) | ||
| ENST00000634540.1:c.-493+11619A>G (LINC02210-CRHR1) | ENSP00000488912.1:n.-493+11619A>G | |
| NM_001256299.2:c.-493+11619A>G (LINC02210-CRHR1) | NP_001243228.1:n.-493+11619A>G | |
| NM_001303016.1:c.-261+11619A>G (LINC02210-CRHR1) | NP_001289945.1:n.-261+11619A>G | |
| NR_026906.2:n.613+1322A>G (LINC02210) | ||
| NR_138257.1:n.3545A>G (LINC02210) | ||
| NR_138258.1:n.434-4124A>G (LINC02210) | ||
| NR_138259.1:n.2032+1322A>G (LINC02210) | ||
| NR_138260.1:n.625-4124A>G (LINC02210) | ||
| NM_001256299.3:c.-493+11619A>G (LINC02210-CRHR1) | NP_001243228.1:n.-493+11619A>G |