Revel Score:
ENST00000427012
0.079
ENST00000413905
0.109
ENST00000378463
0.109
ENST00000378455
0.109
ENST00000397354
0.109
ENST00000378444 (MANE Select)
0.109
ENST00000342274
0.109
ENST00000442018
0.109
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00016813 (AMR)
Genomes Max Group AF
0.00007716 (AMR)
Exomes Max Group AF
0.00015415 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.40062275G>T , CM000685.2:g.40062275G>T | GRCh38 |
| NC_000023.10:g.39921528G>T , CM000685.1:g.39921528G>T | GRCh37 |
| NC_000023.9:g.39806472G>T | NCBI36 |
| NG_008880.1:g.120055C>A , LRG_627:g.120055C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378444.9:c.4292C>A MANE Select | ENSP00000367705.4:p.Ser1431Tyr | |
| ENST00000406200.4:c.4292C>A | ENSP00000384485.3:p.Ser1431Tyr | |
| ENST00000413905.6:c.4190C>A | ENSP00000408006.2:p.Ser1397Tyr | |
| ENST00000427012.3:c.4238C>A | ENSP00000403823.3:p.Ser1413Tyr | |
| ENST00000442018.6:c.4292C>A | ENSP00000387552.2:p.Ser1431Tyr | |
| ENST00000615339.2:c.4292C>A | ENSP00000483217.2:p.Ser1431Tyr | |
| ENST00000672922.2:c.4292C>A | ENSP00000499892.2:p.Ser1431Tyr | |
| ENST00000673391.1:c.4190C>A | ENSP00000500446.1:p.Ser1397Tyr | |
| ENST00000679513.1:c.4292C>A | ENSP00000505761.1:p.Ser1431Tyr | |
| ENST00000680831.1:c.4292C>A | ENSP00000505507.1:p.Ser1431Tyr | |
| ENST00000342274.8:c.4190C>A | ENSP00000345923.4:p.Ser1397Tyr | |
| ENST00000378444.8:c.4292C>A | ENSP00000367705.4:p.Ser1431Tyr | |
| ENST00000378455.8:c.4136C>A | ENSP00000367716.4:p.Ser1379Tyr | |
| ENST00000378463.5:c.821C>A | ENSP00000367724.1:p.Ser274Tyr | |
| ENST00000397354.7:c.4190C>A | ENSP00000380512.3:p.Ser1397Tyr | |
| ENST00000413905.5:c.902C>A | ENSP00000408006.1:p.Ser301Tyr | |
| ENST00000427012.1:c.376C>A | ||
| ENST00000442018.5:c.311C>A | ENSP00000387552.1:p.Ser104Tyr | |
| NM_001123383.1:c.4190C>A , LRG_627t1:c.4190C>A | NP_001116855.1:p.Ser1397Tyr | |
| NM_001123384.1:c.4136C>A | NP_001116856.1:p.Ser1379Tyr | |
| NM_001123385.1:c.4292C>A , LRG_627t2:c.4292C>A | NP_001116857.1:p.Ser1431Tyr | |
| NM_017745.5:c.4190C>A | NP_060215.4:p.Ser1397Tyr | |
| XM_005272616.1:c.4292C>A | XP_005272673.1:p.Ser1431Tyr | |
| XM_005272618.2:c.4292C>A | XP_005272675.1:p.Ser1431Tyr | |
| XM_005272619.3:c.4238C>A | XP_005272676.1:p.Ser1413Tyr | |
| XM_005272620.3:c.4136C>A | XP_005272677.1:p.Ser1379Tyr | |
| XM_006724536.2:c.4292C>A | XP_006724599.1:p.Ser1431Tyr | |
| XM_011543929.1:c.4292C>A | XP_011542231.1:p.Ser1431Tyr | |
| XM_011543930.1:c.4292C>A | XP_011542232.1:p.Ser1431Tyr | |
| XM_011543931.1:c.4292C>A | XP_011542233.1:p.Ser1431Tyr | |
| XM_005272618.3:c.4292C>A | XP_005272675.1:p.Ser1431Tyr | |
| XM_005272619.4:c.4238C>A | XP_005272676.1:p.Ser1413Tyr | |
| XM_005272620.4:c.4136C>A | XP_005272677.1:p.Ser1379Tyr | |
| XM_006724536.3:c.4292C>A | XP_006724599.1:p.Ser1431Tyr | |
| XM_011543929.2:c.4292C>A | XP_011542231.1:p.Ser1431Tyr | |
| XM_011543931.2:c.4292C>A | XP_011542233.1:p.Ser1431Tyr | |
| XM_017029615.1:c.4190C>A | XP_016885104.1:p.Ser1397Tyr | |
| XM_017029616.2:c.4292C>A | XP_016885105.1:p.Ser1431Tyr | |
| NM_001123384.2:c.4136C>A | NP_001116856.1:p.Ser1379Tyr | |
| NM_001123385.2:c.4292C>A MANE Select | NP_001116857.1:p.Ser1431Tyr | |
| NM_017745.6:c.4190C>A | NP_060215.4:p.Ser1397Tyr |