Revel Score:
ENST00000381569 (MANE Select)
0.065
ENST00000265801
0.065
ENST00000522290
0.065
ENST00000360248
0.065
ENST00000334294
0.065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.20255097A>G , CM000670.2:g.20255097A>G | GRCh38 |
| NC_000008.10:g.20112608A>G , CM000670.1:g.20112608A>G | GRCh37 |
| NC_000008.9:g.20156888A>G | NCBI36 |
| NG_015834.2:g.5196T>C | |
| NG_015834.3:g.53885T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265801.6:c.85T>C | ENSP00000265801.6:p.Ser29Pro | |
| ENST00000381569.5:c.85T>C MANE Select | ENSP00000370981.1:p.Ser29Pro | |
| ENST00000522290.5:c.85T>C | ENSP00000429263.1:p.Ser29Pro | |
| ENST00000616228.1:c.85T>C | ENSP00000479534.1:p.Ser29Pro | |
| NM_021020.3:c.85T>C | NP_066300.1:p.Ser29Pro | |
| XM_005273394.3:c.85T>C | XP_005273451.1:p.Ser29Pro | |
| XM_011544383.1:c.85T>C | XP_011542685.1:p.Ser29Pro | |
| XM_011544384.1:c.85T>C | XP_011542686.1:p.Ser29Pro | |
| XM_011544385.1:c.85T>C | XP_011542687.1:p.Ser29Pro | |
| XM_011544386.1:c.85T>C | XP_011542688.1:p.Ser29Pro | |
| XM_011544387.1:c.85T>C | XP_011542689.1:p.Ser29Pro | |
| NM_001362884.1:c.85T>C | NP_001349813.1:p.Ser29Pro | |
| NM_021020.4:c.85T>C | NP_066300.1:p.Ser29Pro | |
| XM_011544384.2:c.85T>C | XP_011542686.1:p.Ser29Pro | |
| XM_011544385.2:c.85T>C | XP_011542687.1:p.Ser29Pro | |
| XM_011544386.2:c.85T>C | XP_011542688.1:p.Ser29Pro | |
| NM_021020.5:c.85T>C MANE Select | NP_066300.1:p.Ser29Pro | |
| NM_001362884.2:c.85T>C | NP_001349813.1:p.Ser29Pro |