Revel Score:
ENST00000458283
0.013
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00180502 (NFE)
Genomes Max Group AF
0.00141135 (NFE)
Exomes Max Group AF
0.0018157 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.100530151C>T , CM000675.2:g.100530151C>T | GRCh38 |
| NC_000013.10:g.101182405C>T , CM000675.1:g.101182405C>T | GRCh37 |
| NC_000013.9:g.99980406C>T | NCBI36 |
| NG_008768.1:g.446069C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376285.6:c.2172C>T MANE Select | ENSP00000365462.1:p.Leu724= | |
| ENST00000636366.1:c.1370C>T | ||
| ENST00000636475.1:c.1687C>T | ||
| ENST00000637657.1:c.1832C>T | ||
| ENST00000647303.1:c.*1656C>T | ENSP00000495663.1:n.*1656C>T | |
| ENST00000376279.7:c.2031C>T | ENSP00000365456.3:p.Leu677= | |
| ENST00000376285.5:c.2172C>T | ENSP00000365462.1:p.Leu724= | |
| ENST00000376286.8:c.2094C>T | ENSP00000365463.4:p.Leu698= | |
| ENST00000428969.1:c.321C>T | ENSP00000399413.1:p.Leu107= | |
| ENST00000458283.5:c.388C>T | ||
| NM_000282.3:c.2172C>T | NP_000273.2:p.Leu724= | |
| NM_001127692.2:c.2094C>T | NP_001121164.1:p.Leu698= | |
| NM_001178004.1:c.2031C>T | NP_001171475.1:p.Leu677= | |
| XR_931615.1:n.2029C>T | ||
| NM_001352605.1:c.2118C>T | NP_001339534.1:p.Leu706= | |
| NM_001352606.1:c.2028C>T | NP_001339535.1:p.Leu676= | |
| NM_001352607.1:c.1953C>T | NP_001339536.1:p.Leu651= | |
| NM_001352608.1:c.1950C>T | NP_001339537.1:p.Leu650= | |
| NM_001352610.1:c.1227C>T | NP_001339539.1:p.Leu409= | |
| NM_001352611.1:c.1173C>T | NP_001339540.1:p.Leu391= | |
| NM_001352612.1:c.1083C>T | NP_001339541.1:p.Leu361= | |
| NR_148027.1:n.2221C>T | ||
| NR_148028.1:n.2259C>T | ||
| NR_148029.1:n.2181C>T | ||
| NR_148030.1:n.2362C>T | ||
| NR_148031.1:n.2175C>T | ||
| XM_017020609.1:c.2073C>T | XP_016876098.1:p.Leu691= | |
| XM_017020613.1:c.*100C>T | XP_016876102.1:n.*100C>T | |
| XR_001749567.1:n.2352C>T | ||
| XR_001749568.1:n.2439C>T | ||
| XR_001749569.1:n.2298C>T | ||
| XR_001749576.1:n.1909C>T | ||
| XR_001749577.1:n.1806C>T | ||
| NM_000282.4:c.2172C>T MANE Select | NP_000273.2:p.Leu724= | |
| NM_001352605.2:c.2118C>T | NP_001339534.1:p.Leu706= | |
| NM_001352606.2:c.2028C>T | NP_001339535.1:p.Leu676= | |
| NM_001352607.2:c.1953C>T | NP_001339536.1:p.Leu651= | |
| NM_001352608.2:c.1950C>T | NP_001339537.1:p.Leu650= | |
| NM_001352610.2:c.1227C>T | NP_001339539.1:p.Leu409= | |
| NM_001352611.2:c.1173C>T | NP_001339540.1:p.Leu391= | |
| NM_001352612.2:c.1083C>T | NP_001339541.1:p.Leu361= | |
| NR_148027.2:n.2143C>T | ||
| NR_148028.2:n.2181C>T | ||
| NR_148029.2:n.2103C>T | ||
| NR_148030.2:n.2284C>T | ||
| NR_148031.2:n.2097C>T | ||
| NM_001127692.3:c.2094C>T | NP_001121164.1:p.Leu698= | |
| NM_001178004.2:c.2031C>T | NP_001171475.1:p.Leu677= |