Revel Score:
ENST00000529702
0.254
ENST00000294304 (MANE Select)
0.861
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68448809G>C , CM000673.2:g.68448809G>C | GRCh38 |
| NC_000011.9:g.68216277G>C , CM000673.1:g.68216277G>C | GRCh37 |
| NC_000011.8:g.67972853G>C | NCBI36 |
| NG_015835.1:g.141170G>C | |
| NG_015835.2:g.141170G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294304.12:c.4587G>C MANE Select | ENSP00000294304.6:p.Arg1529Ser | |
| ENST00000294304.11:c.4587G>C | ENSP00000294304.6:p.Arg1529Ser | |
| ENST00000529481.1:n.178G>C | ||
| ENST00000529702.1:c.257G>C | ||
| ENST00000529993.5:c.*3193G>C | ENSP00000436652.1:n.*3193G>C | |
| NM_001291902.1:c.2844G>C | NP_001278831.1:p.Arg948Ser | |
| NM_002335.3:c.4587G>C | NP_002326.2:p.Arg1529Ser | |
| XM_005273994.2:c.4701G>C | XP_005274051.1:p.Arg1567Ser | |
| XM_011545029.1:c.4728G>C | XP_011543331.1:p.Arg1576Ser | |
| XM_011545030.1:c.4614G>C | XP_011543332.1:p.Arg1538Ser | |
| XM_011545031.1:c.4744G>C | XP_011543333.1:p.Ala1582Pro | |
| XR_949925.1:n.4974G>C | ||
| XR_949926.1:n.4990G>C | ||
| XM_017017735.1:c.2958G>C | XP_016873224.1:p.Arg986Ser | |
| XM_017017736.1:c.2241G>C | XP_016873225.1:p.Arg747Ser | |
| XR_949925.2:n.4974G>C | ||
| XR_949926.2:n.4990G>C | ||
| NM_002335.4:c.4587G>C MANE Select | NP_002326.2:p.Arg1529Ser | |
| NM_001291902.2:c.2844G>C | NP_001278831.1:p.Arg948Ser |