Revel Score:
ENST00000425985
0.007
ENST00000319363 (MANE Select)
0.007
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00684935 (NFE)
Genomes Max Group AF
0.00557639 (NFE)
Exomes Max Group AF
0.00690743 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17085111C>T , CM000684.2:g.17085111C>T | GRCh38 |
| NC_000022.10:g.17566001C>T , CM000684.1:g.17566001C>T | GRCh37 |
| NC_000022.9:g.15946001C>T | NCBI36 |
| NG_028257.1:g.5151C>T , LRG_355:g.5151C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612619.2:c.20C>T | ENSP00000479970.1:p.Pro7Leu | |
| ENST00000694948.1:n.118C>T | ||
| ENST00000694949.1:n.115C>T | ||
| ENST00000694950.1:c.100C>T | ||
| ENST00000319363.11:c.20C>T MANE Select | ENSP00000320936.6:p.Pro7Leu | |
| ENST00000319363.10:c.20C>T | ENSP00000320936.6:p.Pro7Leu | |
| ENST00000459971.1:n.55C>T | ||
| ENST00000477874.1:n.158C>T | ||
| ENST00000612619.1:c.20C>T | ENSP00000479970.1:p.Pro7Leu | |
| NM_001289905.1:c.20C>T | NP_001276834.1:p.Pro7Leu | |
| NM_014339.6:c.20C>T , LRG_355t1:c.20C>T | NP_055154.3:p.Pro7Leu | |
| NM_014339.7:c.20C>T MANE Select | NP_055154.3:p.Pro7Leu | |
| NM_001289905.2:c.20C>T | NP_001276834.1:p.Pro7Leu |