Revel Score:
ENST00000216862 (MANE Select)
0.521
ENST00000395955
0.521
ENST00000395954
0.521
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00218872 (NFE)
Genomes Max Group AF
0.001196 (NFE)
Exomes Max Group AF
0.00223723 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.54158096A>G , CM000682.2:g.54158096A>G | GRCh38 |
| NC_000020.10:g.52774635A>G , CM000682.1:g.52774635A>G | GRCh37 |
| NC_000020.9:g.52208042A>G | NCBI36 |
| NG_008334.1:g.20882T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216862.8:c.1226T>C MANE Select | ENSP00000216862.3:p.Leu409Ser | |
| ENST00000216862.7:c.1226T>C | ENSP00000216862.3:p.Leu409Ser | |
| ENST00000395954.3:c.800T>C | ENSP00000379284.3:p.Leu267Ser | |
| ENST00000395955.7:c.1226T>C | ENSP00000379285.3:p.Leu409Ser | |
| NM_000782.4:c.1226T>C | NP_000773.2:p.Leu409Ser | |
| NM_001128915.1:c.1226T>C | NP_001122387.1:p.Leu409Ser | |
| XM_005260304.3:c.1226T>C | XP_005260361.1:p.Leu409Ser | |
| XM_005260304.5:c.1226T>C | XP_005260361.1:p.Leu409Ser | |
| XM_017027691.2:c.1226T>C | XP_016883180.1:p.Leu409Ser | |
| XM_017027692.2:c.1226T>C | XP_016883181.1:p.Leu409Ser | |
| XM_017027693.2:c.1226T>C | XP_016883182.1:p.Leu409Ser | |
| NM_000782.5:c.1226T>C MANE Select | NP_000773.2:p.Leu409Ser | |
| NM_001128915.2:c.1226T>C | NP_001122387.1:p.Leu409Ser |