Revel Score:
ENST00000362061 (MANE Select)
0.844
ENST00000367338
0.844
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00024808 (AMR)
Genomes Max Group AF
0.00002259 (AMR)
Exomes Max Group AF
0.00029574 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201053226C>A , CM000663.2:g.201053226C>A | GRCh38 |
| NC_000001.10:g.201022354C>A , CM000663.1:g.201022354C>A | GRCh37 |
| NC_000001.9:g.199288977C>A | NCBI36 |
| NG_009816.1:g.64341G>T | |
| NG_009816.2:g.64341G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.3844G>T MANE Select | ENSP00000355192.3:p.Ala1282Ser | |
| ENST00000679417.1:c.*3007G>T | ENSP00000506706.1:n.*3007G>T | |
| ENST00000680051.1:n.970G>T | ||
| ENST00000680059.1:c.*1362G>T | ENSP00000504944.1:n.*1362G>T | |
| ENST00000681078.1:c.3844G>T | ENSP00000506645.1:p.Ala1282Ser | |
| ENST00000681190.1:c.3844G>T | ENSP00000506428.1:p.Ala1282Ser | |
| ENST00000681874.1:c.3784G>T | ENSP00000505162.1:p.Ala1262Ser | |
| ENST00000362061.3:c.3844G>T | ENSP00000355192.3:p.Ala1282Ser | |
| ENST00000367338.7:c.3787G>T | ENSP00000356307.3:p.Ala1263Ser | |
| NM_000069.2:c.3844G>T | NP_000060.2:p.Ala1282Ser | |
| XM_005245478.2:c.3787G>T | XP_005245535.1:p.Ala1263Ser | |
| XM_005245478.3:c.3787G>T | XP_005245535.1:p.Ala1263Ser | |
| NM_000069.3:c.3844G>T MANE Select | NP_000060.2:p.Ala1282Ser |