Revel Score:
ENST00000272163 (MANE Select)
0.218
ENST00000338179
0.218
ENST00000425080
0.218
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.225419442C>G , CM000663.2:g.225419442C>G | GRCh38 |
| NC_000001.10:g.225607144C>G , CM000663.1:g.225607144C>G | GRCh37 |
| NC_000001.9:g.223673767C>G | NCBI36 |
| NG_008099.1:g.14376G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272163.9:c.461G>C MANE Select | ENSP00000272163.4:p.Ser154Thr | |
| ENST00000651341.1:c.461G>C | ENSP00000499114.1:p.Ser154Thr | |
| ENST00000272163.8:c.461G>C | ENSP00000272163.4:p.Ser154Thr | |
| ENST00000338179.6:c.461G>C | ENSP00000339883.2:p.Ser154Thr | |
| ENST00000425080.1:c.461G>C | ENSP00000388059.1:p.Ser154Thr | |
| NM_002296.3:c.461G>C | NP_002287.2:p.Ser154Thr | |
| NM_194442.2:c.461G>C | NP_919424.1:p.Ser154Thr | |
| XM_005273125.2:c.461G>C | XP_005273182.1:p.Ser154Thr | |
| XM_011544185.1:c.461G>C | XP_011542487.1:p.Ser154Thr | |
| XM_011544186.1:c.461G>C | XP_011542488.1:p.Ser154Thr | |
| XM_011544187.1:c.461G>C | XP_011542489.1:p.Ser154Thr | |
| XM_005273125.3:c.461G>C | XP_005273182.1:p.Ser154Thr | |
| XM_011544185.3:c.461G>C | XP_011542487.1:p.Ser154Thr | |
| XR_001737168.2:n.588G>C | ||
| NM_002296.4:c.461G>C MANE Select | NP_002287.2:p.Ser154Thr | |
| NM_194442.3:c.461G>C | NP_919424.1:p.Ser154Thr |