Revel Score:
ENST00000375715
0.581
ENST00000375708 (MANE Select)
0.581
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001426 (SAS)
Exomes Max Group AF
0.00001583 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91726599T>A , CM000671.2:g.91726599T>A | GRCh38 |
| NC_000009.11:g.94488881T>A , CM000671.1:g.94488881T>A | GRCh37 |
| NC_000009.10:g.93528702T>A | NCBI36 |
| NG_008089.1:g.228564A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.1328A>T MANE Select | ENSP00000364860.3:p.Gln443Leu | |
| ENST00000375708.3:c.1328A>T | ENSP00000364860.3:p.Gln443Leu | |
| ENST00000375715.5:c.908A>T | ENSP00000364867.1:p.Gln303Leu | |
| ENST00000550066.5:n.1796A>T | ||
| NM_004560.3:c.1328A>T | NP_004551.2:p.Gln443Leu | |
| XM_005252008.3:c.908A>T | XP_005252065.1:p.Gln303Leu | |
| XM_005252009.3:c.125A>T | XP_005252066.1:p.Gln42Leu | |
| XM_006717121.2:c.908A>T | XP_006717184.1:p.Gln303Leu | |
| XM_011518721.1:c.908A>T | XP_011517023.1:p.Gln303Leu | |
| NM_001318204.1:c.1294A>T | NP_001305133.1:p.Ser432Cys | |
| XM_005252008.4:c.908A>T | XP_005252065.1:p.Gln303Leu | |
| XM_006717121.3:c.908A>T | XP_006717184.1:p.Gln303Leu | |
| XM_017014762.1:c.1319A>T | XP_016870251.1:p.Gln440Leu | |
| XM_017014763.1:c.908A>T | XP_016870252.1:p.Gln303Leu | |
| XR_001746315.1:n.1537A>T | ||
| NM_004560.4:c.1328A>T MANE Select | NP_004551.2:p.Gln443Leu | |
| NM_001318204.2:c.1294A>T | NP_001305133.1:p.Ser432Cys |