Revel Score:
ENST00000521886
0.422
ENST00000401675
0.939
ENST00000484558 (MANE Select)
0.939
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23767463C>G , CM000684.2:g.23767463C>G | GRCh38 |
| NC_000022.10:g.24109650C>G , CM000684.1:g.24109650C>G | GRCh37 |
| NC_000022.9:g.22439650C>G | NCBI36 |
| NG_034223.1:g.5510G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000484558.3:c.172G>C MANE Select | ENSP00000418428.3:p.Gly58Arg | |
| ENST00000401675.7:c.172G>C | ENSP00000384973.3:p.Gly58Arg | |
| ENST00000484558.2:c.172G>C | ENSP00000418428.2:p.Gly58Arg | |
| ENST00000517886.1:c.119G>C | ENSP00000429976.1:p.Gly40Ala | |
| ENST00000520222.1:c.41+371G>C | ENSP00000430042.1:n.41+371G>C | |
| NM_001301339.1:c.172G>C | NP_001288268.1:p.Gly58Arg | |
| NM_213720.2:c.172G>C | NP_998885.1:p.Gly58Arg | |
| NR_125755.1:n.217G>C | ||
| NR_125756.1:n.139+371G>C | ||
| NM_001301339.2:c.172G>C | NP_001288268.1:p.Gly58Arg | |
| NM_213720.3:c.172G>C MANE Select | NP_998885.1:p.Gly58Arg | |
| NR_125755.2:n.217G>C | ||
| NR_125756.2:n.139+371G>C |