Revel Score:
ENST00000375715
0.448
ENST00000375708 (MANE Select)
0.448
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00009867 (NFE)
Genomes Max Group AF
0.00014676 (NFE)
Exomes Max Group AF
0.00009125 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91724774C>A , CM000671.2:g.91724774C>A | GRCh38 |
| NC_000009.11:g.94487056C>A , CM000671.1:g.94487056C>A | GRCh37 |
| NC_000009.10:g.93526877C>A | NCBI36 |
| NG_008089.1:g.230389G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.1720G>T MANE Select | ENSP00000364860.3:p.Val574Leu | |
| ENST00000375708.3:c.1720G>T | ENSP00000364860.3:p.Val574Leu | |
| ENST00000375715.5:c.1300G>T | ENSP00000364867.1:p.Val434Leu | |
| ENST00000550066.5:n.2188G>T | ||
| NM_004560.3:c.1720G>T | NP_004551.2:p.Val574Leu | |
| XM_005252008.3:c.1300G>T | XP_005252065.1:p.Val434Leu | |
| XM_005252009.3:c.517G>T | XP_005252066.1:p.Val173Leu | |
| XM_006717121.2:c.1300G>T | XP_006717184.1:p.Val434Leu | |
| XM_011518721.1:c.1300G>T | XP_011517023.1:p.Val434Leu | |
| XM_005252008.4:c.1300G>T | XP_005252065.1:p.Val434Leu | |
| XM_006717121.3:c.1300G>T | XP_006717184.1:p.Val434Leu | |
| XM_017014762.1:c.1711G>T | XP_016870251.1:p.Val571Leu | |
| XM_017014763.1:c.1300G>T | XP_016870252.1:p.Val434Leu | |
| NM_004560.4:c.1720G>T MANE Select | NP_004551.2:p.Val574Leu |