Revel Score:
ENST00000264357
0.714
ENST00000371256
0.714
ENST00000371251
0.714
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.123482856G>C , CM000685.2:g.123482856G>C | GRCh38 |
| NC_000023.10:g.122616707G>C , CM000685.1:g.122616707G>C | GRCh37 |
| NC_000023.9:g.122444388G>C | NCBI36 |
| NG_009377.2:g.303614G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620443.2:c.2497G>C MANE Select | ENSP00000478489.1:p.Gly833Arg | |
| ENST00000622768.5:c.2497G>C MANE Plus Clinical | ENSP00000481554.1:p.Gly833Arg | |
| ENST00000460123.1:n.134G>C | ||
| ENST00000541091.5:c.2497G>C | ENSP00000446440.2:p.Gly833Arg | |
| ENST00000620443.1:c.2497G>C | ENSP00000478489.1:p.Gly833Arg | |
| ENST00000620581.4:c.*137G>C | ENSP00000481875.1:n.*137G>C | |
| ENST00000622768.4:c.2497G>C | ENSP00000481554.1:p.Gly833Arg | |
| NM_000828.4:c.2497G>C | NP_000819.3:p.Gly833Arg | |
| NM_007325.4:c.2497G>C | NP_015564.4:p.Gly833Arg | |
| NM_007325.5:c.2497G>C MANE Select | NP_015564.5:p.Gly833Arg | |
| NM_000828.5:c.2497G>C MANE Plus Clinical | NP_000819.4:p.Gly833Arg |