COSMIC:
COSM4988923 (not active)
COSM4988924 (not active)
Revel Score:
ENST00000424970
0.085
ENST00000356736 (MANE Select)
0.085
ENST00000394833
0.085
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07343662 (NFE)
Genomes Max Group AF
0.06876428 (NFE)
Exomes Max Group AF
0.07363259 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102267552C>T , CM000666.2:g.102267552C>T | GRCh38 |
| NC_000004.11:g.103188709C>T , CM000666.1:g.103188709C>T | GRCh37 |
| NC_000004.10:g.103407732C>T | NCBI36 |
| NG_047177.1:g.82947G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424970.7:c.*143G>A | ENSP00000394548.3:n.*143G>A | |
| ENST00000682227.1:c.1171G>A | ENSP00000508363.1:p.Ala391Thr | |
| ENST00000682243.1:c.*1317G>A | ENSP00000507952.1:n.*1317G>A | |
| ENST00000682549.1:c.*143G>A | ENSP00000507483.1:n.*143G>A | |
| ENST00000682932.1:c.1171G>A | ENSP00000507414.1:p.Ala391Thr | |
| ENST00000683173.1:c.*1292G>A | ENSP00000508032.1:n.*1292G>A | |
| ENST00000683221.1:c.1171G>A | ENSP00000508093.1:p.Ala391Thr | |
| ENST00000683401.1:n.1104G>A | ||
| ENST00000683412.1:c.1171G>A | ENSP00000507538.1:p.Ala391Thr | |
| ENST00000683462.1:c.*143G>A | ENSP00000507170.1:n.*143G>A | |
| ENST00000683634.1:c.*1292G>A | ENSP00000507087.1:n.*1292G>A | |
| ENST00000683706.1:c.*143G>A | ENSP00000506745.1:n.*143G>A | |
| ENST00000683916.1:c.*143G>A | ENSP00000508106.1:n.*143G>A | |
| ENST00000684289.1:c.*846G>A | ENSP00000506748.1:n.*846G>A | |
| ENST00000684386.1:c.*385G>A | ENSP00000507611.1:n.*385G>A | |
| ENST00000356736.5:c.1171G>A MANE Select | ENSP00000349174.4:p.Ala391Thr | |
| ENST00000356736.4:c.1171G>A | ENSP00000349174.4:p.Ala391Thr | |
| ENST00000394833.6:c.1171G>A | ENSP00000378310.2:p.Ala391Thr | |
| ENST00000424970.6:c.1171G>A | ENSP00000394548.2:p.Ala391Thr | |
| NM_001135146.1:c.1171G>A | NP_001128618.1:p.Ala391Thr | |
| NM_001135147.1:c.1171G>A | NP_001128619.1:p.Ala391Thr | |
| NM_001135148.1:c.970G>A | NP_001128620.1:p.Ala324Thr | |
| NM_022154.5:c.1171G>A | NP_071437.3:p.Ala391Thr | |
| XM_005263177.1:c.1171G>A | XP_005263234.1:p.Ala391Thr | |
| XM_011532182.1:c.529G>A | XP_011530484.1:p.Ala177Thr | |
| XM_005263177.2:c.1171G>A | XP_005263234.1:p.Ala391Thr | |
| XM_017008541.1:c.970G>A | XP_016864030.1:p.Ala324Thr | |
| XM_024454184.1:c.1171G>A | XP_024309952.1:p.Ala391Thr | |
| NM_001135146.2:c.1171G>A MANE Select | NP_001128618.1:p.Ala391Thr | |
| NM_001135148.2:c.970G>A | NP_001128620.1:p.Ala324Thr |