Revel Score:
ENST00000310917
0.085
ENST00000344408 (MANE Select)
0.085
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00217904 (MID)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00229827 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5562916C>T , CM000666.2:g.5562916C>T | GRCh38 |
| NC_000004.11:g.5564643C>T , CM000666.1:g.5564643C>T | GRCh37 |
| NC_000004.10:g.5615544C>T | NCBI36 |
| NG_015821.1:g.151633G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.3859G>A MANE Select | ENSP00000342144.5:p.Val1287Ile | |
| ENST00000310917.6:c.3619G>A | ENSP00000311683.2:p.Val1207Ile | |
| ENST00000344408.9:c.3859G>A | ENSP00000342144.5:p.Val1287Ile | |
| ENST00000475313.5:c.3419+2342G>A | ENSP00000431981.1:n.3419+2342G>A | |
| ENST00000509670.1:c.*2252G>A | ENSP00000423876.1:n.*2252G>A | |
| NM_001166136.1:c.3619G>A | NP_001159608.1:p.Val1207Ile | |
| NM_147127.4:c.3859G>A | NP_667338.3:p.Val1287Ile | |
| XM_011513392.1:c.3868G>A | XP_011511694.1:p.Val1290Ile | |
| XM_011513393.1:c.3668+2342G>A | XP_011511695.1:n.3668+2342G>A | |
| XM_011513394.1:c.3628G>A | XP_011511696.1:p.Val1210Ile | |
| XM_017007736.1:c.3619G>A | XP_016863225.1:p.Val1207Ile | |
| XM_017007737.1:c.3619G>A | XP_016863226.1:p.Val1207Ile | |
| XM_017007739.1:c.2179G>A | XP_016863228.1:p.Val727Ile | |
| XM_024453893.1:c.2179G>A | XP_024309661.1:p.Val727Ile | |
| XR_001741141.1:n.3709G>A | ||
| NM_147127.5:c.3859G>A MANE Select | NP_667338.3:p.Val1287Ile | |
| NM_001166136.2:c.3619G>A | NP_001159608.1:p.Val1207Ile |