Revel Score:
ENST00000454872 (MANE Select)
0.366
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013355 (MID)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00014138 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.175097171T>C , CM000665.2:g.175097171T>C | GRCh38 |
| NC_000003.11:g.174814961T>C , CM000665.1:g.174814961T>C | GRCh37 |
| NC_000003.10:g.176297655T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454872.6:c.425T>C (NAALADL2) MANE Select | ENSP00000404705.1:p.Ile142Thr | |
| ENST00000454872.5:c.425T>C (NAALADL2) | ENSP00000404705.1:p.Ile142Thr | |
| ENST00000473253.5:n.657T>C (NAALADL2) | ||
| ENST00000485853.5:n.511T>C (NAALADL2) | ||
| ENST00000614002.4:c.389T>C (NAALADL2) | ENSP00000479989.1:p.Ile130Thr | |
| NM_207015.2:c.425T>C (NAALADL2) | NP_996898.2:p.Ile142Thr | |
| NR_046390.1:n.110+15373A>G (NAALADL2-AS3) | ||
| XM_006713560.2:c.374T>C (NAALADL2) | XP_006713623.1:p.Ile125Thr | |
| XM_011512612.1:c.455T>C (NAALADL2) | XP_011510914.1:p.Ile152Thr | |
| XM_011512613.1:c.404T>C (NAALADL2) | XP_011510915.1:p.Ile135Thr | |
| XM_011512614.1:c.374T>C (NAALADL2) | XP_011510916.1:p.Ile125Thr | |
| XM_011512615.1:c.455T>C (NAALADL2) | XP_011510917.1:p.Ile152Thr | |
| XM_011512617.1:c.455T>C (NAALADL2) | XP_011510919.1:p.Ile152Thr | |
| XM_006713560.3:c.374T>C (NAALADL2) | XP_006713623.1:p.Ile125Thr | |
| XM_011512612.3:c.455T>C (NAALADL2) | XP_011510914.1:p.Ile152Thr | |
| XM_011512613.2:c.404T>C (NAALADL2) | XP_011510915.1:p.Ile135Thr | |
| XM_011512615.3:c.455T>C (NAALADL2) | XP_011510917.1:p.Ile152Thr | |
| XM_011512617.3:c.455T>C (NAALADL2) | XP_011510919.1:p.Ile152Thr | |
| XM_017006070.2:c.374T>C (NAALADL2) | XP_016861559.1:p.Ile125Thr | |
| XM_017006071.2:c.374T>C (NAALADL2) | XP_016861560.1:p.Ile125Thr | |
| XM_017006072.2:c.374T>C (NAALADL2) | XP_016861561.1:p.Ile125Thr | |
| XM_017006073.2:c.374T>C (NAALADL2) | XP_016861562.1:p.Ile125Thr | |
| XM_017006074.2:c.374T>C (NAALADL2) | XP_016861563.1:p.Ile125Thr | |
| XM_017006075.2:c.374T>C (NAALADL2) | XP_016861564.1:p.Ile125Thr | |
| XM_017006076.2:c.374T>C (NAALADL2) | XP_016861565.1:p.Ile125Thr | |
| XM_017006077.2:c.374T>C (NAALADL2) | XP_016861566.1:p.Ile125Thr | |
| XM_017006078.2:c.374T>C (NAALADL2) | XP_016861567.1:p.Ile125Thr | |
| XM_017006079.2:c.374T>C (NAALADL2) | XP_016861568.1:p.Ile125Thr | |
| XM_017006080.2:c.374T>C (NAALADL2) | XP_016861569.1:p.Ile125Thr | |
| XM_017006081.2:c.455T>C (NAALADL2) | XP_016861570.1:p.Ile152Thr | |
| XM_017006082.2:c.374T>C (NAALADL2) | XP_016861571.1:p.Ile125Thr | |
| NM_207015.3:c.425T>C (NAALADL2) MANE Select | NP_996898.2:p.Ile142Thr |