Revel Score:
ENST00000372468
0.380
ENST00000372470 (MANE Select)
0.380
ENST00000413998
0.380
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43349309C>A , CM000663.2:g.43349309C>A | GRCh38 |
| NC_000001.10:g.43814980C>A , CM000663.1:g.43814980C>A | GRCh37 |
| NC_000001.9:g.43587567C>A | NCBI36 |
| NG_007525.1:g.16506C>A , LRG_510:g.16506C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.1515C>A MANE Select | ENSP00000361548.3:p.Ser505Arg | |
| ENST00000413998.7:c.1494C>A | ENSP00000414004.3:p.Ser498Arg | |
| ENST00000638732.1:n.1515C>A | ||
| ENST00000643351.1:c.47C>A | ||
| ENST00000372470.7:c.1515C>A | ENSP00000361548.3:p.Ser505Arg | |
| ENST00000413998.6:c.1515C>A | ENSP00000414004.2:p.Ser505Arg | |
| ENST00000612993.1:c.1515C>A | ENSP00000480273.1:p.Ser505Arg | |
| NM_005373.2:c.1515C>A , LRG_510t1:c.1515C>A | NP_005364.1:p.Ser505Arg | |
| XM_011541478.1:c.1494C>A | XP_011539780.1:p.Ser498Arg | |
| XM_017001320.1:c.1686C>A | XP_016856809.1:p.Ser562Arg | |
| NM_005373.3:c.1515C>A MANE Select | NP_005364.1:p.Ser505Arg |