Revel Score:
ENST00000265689 (MANE Select)
0.058
ENST00000356135
0.058
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007554 (AMR)
Genomes Max Group AF
0.00002292 (AMR)
Exomes Max Group AF
0.00007559 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68120954G>A , CM000673.2:g.68120954G>A | GRCh38 |
| NC_000011.9:g.67888421G>A , CM000673.1:g.67888421G>A | GRCh37 |
| NC_000011.8:g.67644997G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265689.9:c.224C>T MANE Select | ENSP00000265689.4:p.Pro75Leu | |
| ENST00000265689.8:c.224C>T | ENSP00000265689.4:p.Pro75Leu | |
| ENST00000356135.9:c.224C>T | ENSP00000348454.4:p.Pro75Leu | |
| NM_001277.2:c.224C>T | NP_001268.2:p.Pro75Leu | |
| NM_212469.1:c.224C>T | NP_997634.1:p.Pro75Leu | |
| XR_428904.2:n.435C>T | ||
| XR_949772.1:n.435C>T | ||
| XR_949773.1:n.435C>T | ||
| XR_949777.1:n.435C>T | ||
| XM_017017147.1:c.224C>T | XP_016872636.1:p.Pro75Leu | |
| XR_002957119.1:n.436C>T | ||
| XR_428904.3:n.436C>T | ||
| XR_949772.2:n.418C>T | ||
| XR_949773.2:n.436C>T | ||
| NM_001277.3:c.224C>T MANE Select | NP_001268.2:p.Pro75Leu | |
| NM_001376219.1:c.224C>T | NP_001363148.1:p.Pro75Leu | |
| NM_001376220.1:c.224C>T | NP_001363149.1:p.Pro75Leu | |
| NM_001376221.1:c.-141C>T | NP_001363150.1:n.-141C>T | |
| NM_001376222.1:c.-141C>T | NP_001363151.1:n.-141C>T | |
| NM_212469.2:c.224C>T | NP_997634.1:p.Pro75Leu | |
| NR_164782.1:n.435C>T |