Revel Score:
ENST00000446278
0.728
ENST00000337415
0.860
ENST00000345913
0.860
ENST00000346956
0.860
ENST00000349624
0.860
ENST00000329066 (MANE Select)
0.860
ENST00000382201
0.860
ENST00000382198
0.860
ENST00000422464
0.860
ENST00000469607
0.860
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.1494027G>C , CM000664.2:g.1494027G>C | GRCh38 |
| NC_000002.11:g.1497799G>C , CM000664.1:g.1497799G>C | GRCh37 |
| NC_000002.10:g.1476806G>C | NCBI36 |
| NG_011581.1:g.85565G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329066.9:c.1994G>C MANE Select | ENSP00000329869.4:p.Arg665Pro | |
| ENST00000329066.8:c.1994G>C | ENSP00000329869.4:p.Arg665Pro | |
| ENST00000345913.8:c.1994G>C | ENSP00000318820.7:p.Arg665Pro | |
| ENST00000346956.7:c.1994G>C | ENSP00000263886.6:p.Arg665Pro | |
| ENST00000382198.5:c.1475G>C | ENSP00000371633.1:p.Arg492Pro | |
| ENST00000382201.7:c.1823G>C | ENSP00000371636.3:p.Arg608Pro | |
| ENST00000422464.5:c.1781G>C | ENSP00000405788.1:p.Arg594Pro | |
| ENST00000446278.5:c.418G>C | ||
| ENST00000462973.5:n.412G>C | ||
| ENST00000469607.3:c.416G>C | ENSP00000419461.1:p.Arg139Pro | |
| ENST00000497517.6:n.665G>C | ||
| NM_000547.5:c.1994G>C | NP_000538.3:p.Arg665Pro | |
| NM_001206744.1:c.1994G>C | NP_001193673.1:p.Arg665Pro | |
| NM_001206745.1:c.1823G>C | NP_001193674.1:p.Arg608Pro | |
| NM_175719.3:c.1823G>C | NP_783650.1:p.Arg608Pro | |
| NM_175721.3:c.1994G>C | NP_783652.1:p.Arg665Pro | |
| NM_175722.3:c.1475G>C | NP_783653.1:p.Arg492Pro | |
| XM_011510379.1:c.1994G>C | XP_011508681.1:p.Arg665Pro | |
| XM_011510380.1:c.1994G>C | XP_011508682.1:p.Arg665Pro | |
| XM_011510381.1:c.1823G>C | XP_011508683.1:p.Arg608Pro | |
| XR_922681.1:n.1995G>C | ||
| XM_011510380.3:c.2030G>C | XP_011508682.2:p.Arg677Pro | |
| XM_024453085.1:c.2030G>C | XP_024308853.1:p.Arg677Pro | |
| XM_024453086.1:c.2030G>C | XP_024308854.1:p.Arg677Pro | |
| XM_024453087.1:c.1994G>C | XP_024308855.1:p.Arg665Pro | |
| XM_024453088.1:c.1994G>C | XP_024308856.1:p.Arg665Pro | |
| XM_024453089.1:c.1994G>C | XP_024308857.1:p.Arg665Pro | |
| XM_024453090.1:c.2030G>C | XP_024308858.1:p.Arg677Pro | |
| XM_024453091.1:c.1859G>C | XP_024308859.1:p.Arg620Pro | |
| XM_024453092.1:c.1859G>C | XP_024308860.1:p.Arg620Pro | |
| XM_024453093.1:c.1511G>C | XP_024308861.1:p.Arg504Pro | |
| NM_001206744.2:c.1994G>C MANE Select | NP_001193673.1:p.Arg665Pro | |
| NM_000547.6:c.1994G>C | NP_000538.3:p.Arg665Pro | |
| NM_001206745.2:c.1823G>C | NP_001193674.1:p.Arg608Pro | |
| NM_175719.4:c.1823G>C | NP_783650.1:p.Arg608Pro |