Revel Score:
ENST00000401675
0.943
ENST00000484558 (MANE Select)
0.943
ENST00000520222
0.259
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23766172C>G , CM000684.2:g.23766172C>G | GRCh38 |
| NC_000022.10:g.24108359C>G , CM000684.1:g.24108359C>G | GRCh37 |
| NC_000022.9:g.22438359C>G | NCBI36 |
| NG_034223.1:g.6801G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000484558.3:c.365G>C MANE Select | ENSP00000418428.3:p.Cys122Ser | |
| ENST00000401675.7:c.386G>C | ENSP00000384973.3:p.Cys129Ser | |
| ENST00000484558.2:c.365G>C | ENSP00000418428.2:p.Cys122Ser | |
| ENST00000517886.1:c.*12G>C | ENSP00000429976.1:n.*12G>C | |
| ENST00000520222.1:c.145G>C | ENSP00000430042.1:p.Val49Leu | |
| ENST00000523865.1:n.293G>C | ||
| NM_001301339.1:c.386G>C | NP_001288268.1:p.Cys129Ser | |
| NM_213720.2:c.365G>C | NP_998885.1:p.Cys122Ser | |
| NR_125755.1:n.410G>C | ||
| NR_125756.1:n.243G>C | ||
| NM_001301339.2:c.386G>C | NP_001288268.1:p.Cys129Ser | |
| NM_213720.3:c.365G>C MANE Select | NP_998885.1:p.Cys122Ser | |
| NR_125755.2:n.410G>C | ||
| NR_125756.2:n.243G>C |