Revel Score:
ENST00000372468
0.079
ENST00000372470 (MANE Select)
0.079
ENST00000413998
0.079
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43348870G>C , CM000663.2:g.43348870G>C | GRCh38 |
| NC_000001.10:g.43814541G>C , CM000663.1:g.43814541G>C | GRCh37 |
| NC_000001.9:g.43587128G>C | NCBI36 |
| NG_007525.1:g.16067G>C , LRG_510:g.16067G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.1336G>C MANE Select | ENSP00000361548.3:p.Gly446Arg | |
| ENST00000413998.7:c.1315G>C | ENSP00000414004.3:p.Gly439Arg | |
| ENST00000638732.1:n.1336G>C | ||
| ENST00000372470.7:c.1336G>C | ENSP00000361548.3:p.Gly446Arg | |
| ENST00000413998.6:c.1336G>C | ENSP00000414004.2:p.Gly446Arg | |
| ENST00000612993.1:c.1336G>C | ENSP00000480273.1:p.Gly446Arg | |
| NM_005373.2:c.1336G>C , LRG_510t1:c.1336G>C | NP_005364.1:p.Gly446Arg | |
| XM_011541478.1:c.1315G>C | XP_011539780.1:p.Gly439Arg | |
| XM_017001320.1:c.1507G>C | XP_016856809.1:p.Gly503Arg | |
| NM_005373.3:c.1336G>C MANE Select | NP_005364.1:p.Gly446Arg |