Revel Score:
ENST00000220562 (MANE Select)
0.832
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000542 (NFE)
Exomes Max Group AF
0.00000531 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.28717012C>T , CM000670.2:g.28717012C>T | GRCh38 |
| NC_000008.10:g.28574529C>T , CM000670.1:g.28574529C>T | GRCh37 |
| NC_000008.9:g.28630448C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696177.1:c.953C>T | ENSP00000512467.1:p.Pro318Leu | |
| ENST00000696178.1:c.953C>T | ENSP00000512468.1:p.Pro318Leu | |
| ENST00000696179.1:c.953C>T | ENSP00000512469.1:p.Pro318Leu | |
| ENST00000696180.1:c.953C>T | ENSP00000512470.1:p.Pro318Leu | |
| ENST00000696181.1:c.953C>T | ENSP00000512471.1:p.Pro318Leu | |
| ENST00000696182.1:c.-114-14211C>T | ENSP00000512472.1:n.-114-14211C>T | |
| ENST00000696184.1:c.953C>T | ENSP00000512473.1:p.Pro318Leu | |
| ENST00000696185.1:n.1586C>T | ||
| ENST00000696186.1:c.953C>T | ENSP00000512474.1:p.Pro318Leu | |
| ENST00000220562.9:c.953C>T MANE Select | ENSP00000220562.4:p.Pro318Leu | |
| ENST00000220562.8:c.953C>T | ENSP00000220562.4:p.Pro318Leu | |
| ENST00000519886.5:n.631+946C>T | ||
| ENST00000521532.5:c.42+6509C>T | ENSP00000431013.1:n.42+6509C>T | |
| ENST00000522698.1:c.213+115C>T | ||
| ENST00000523149.5:c.28-227C>T | ENSP00000428691.1:n.28-227C>T | |
| NM_001440.3:c.953C>T | NP_001431.1:p.Pro318Leu | |
| NR_073468.1:n.188-14211C>T | ||
| NR_073469.1:n.763+946C>T | ||
| XM_011544440.1:c.953C>T | XP_011542742.1:p.Pro318Leu | |
| XM_011544440.3:c.953C>T | XP_011542742.1:p.Pro318Leu | |
| XM_024447094.1:c.953C>T | XP_024302862.1:p.Pro318Leu | |
| XM_024447095.1:c.953C>T | XP_024302863.1:p.Pro318Leu | |
| XM_024447096.1:c.953C>T | XP_024302864.1:p.Pro318Leu | |
| NM_001440.4:c.953C>T MANE Select | NP_001431.1:p.Pro318Leu | |
| NR_073468.2:n.160-14211C>T | ||
| NR_073469.2:n.735+946C>T |