Revel Score:
ENST00000425354 (MANE Select)
0.276
ENST00000394426
0.276
ENST00000327550
0.276
ENST00000338561
0.276
ENST00000543726
0.276
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17486371 (SAS)
Genomes Max Group AF
0.17460139 (SAS)
Exomes Max Group AF
0.17435076 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53211761G>A , CM000674.2:g.53211761G>A | GRCh38 |
| NC_000012.11:g.53605545G>A , CM000674.1:g.53605545G>A | GRCh37 |
| NC_000012.10:g.51891812G>A | NCBI36 |
| NG_029822.1:g.25496C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425354.7:c.1280C>T MANE Select | ENSP00000388510.2:p.Ser427Leu | |
| ENST00000338561.9:c.1247C>T | ENSP00000343698.5:p.Ser416Leu | |
| ENST00000394426.5:c.1064C>T | ENSP00000377947.2:p.Ser355Leu | |
| ENST00000425354.6:c.1280C>T | ENSP00000388510.2:p.Ser427Leu | |
| ENST00000543726.1:c.1214C>T | ENSP00000444335.1:p.Ser405Leu | |
| ENST00000543762.5:n.1273C>T | ||
| NM_000966.5:c.1280C>T | NP_000957.1:p.Ser427Leu | |
| NM_001042728.2:c.1247C>T | NP_001036193.1:p.Ser416Leu | |
| NM_001243730.1:c.1064C>T | NP_001230659.1:p.Ser355Leu | |
| NM_001243731.1:c.917C>T | NP_001230660.1:p.Ser306Leu | |
| NM_001243732.1:c.1214C>T | NP_001230661.1:p.Ser405Leu | |
| XM_005269054.2:c.1541C>T | XP_005269111.1:p.Ser514Leu | |
| XM_005269055.2:c.1541C>T | XP_005269112.1:p.Ser514Leu | |
| XM_005269056.2:c.1280C>T | XP_005269113.1:p.Ser427Leu | |
| XM_005269057.1:c.1280C>T | XP_005269114.1:p.Ser427Leu | |
| XM_011538628.1:c.1064C>T | XP_011536930.1:p.Ser355Leu | |
| XM_024449112.1:c.1541C>T | XP_024304880.1:p.Ser514Leu | |
| XM_024449113.1:c.1280C>T | XP_024304881.1:p.Ser427Leu | |
| XM_024449114.1:c.1064C>T | XP_024304882.1:p.Ser355Leu | |
| NM_000966.6:c.1280C>T MANE Select | NP_000957.1:p.Ser427Leu | |
| NM_001042728.3:c.1247C>T | NP_001036193.1:p.Ser416Leu | |
| NM_001243731.2:c.917C>T | NP_001230660.1:p.Ser306Leu | |
| NM_001243732.2:c.1214C>T | NP_001230661.1:p.Ser405Leu | |
| NM_001243730.2:c.1064C>T | NP_001230659.1:p.Ser355Leu |