Revel Score:
ENST00000298296 (MANE Select)
0.030
ENST00000448920
0.030
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.141895347T>C , CM000685.2:g.141895347T>C | GRCh38 |
| NC_000023.10:g.140983133T>C , CM000685.1:g.140983133T>C | GRCh37 |
| NC_000023.9:g.140810799T>C | NCBI36 |
| NG_013272.1:g.62032T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298296.1:c.988T>C MANE Select | ENSP00000298296.1:p.Cys330Arg | |
| ENST00000443323.2:c.-118-1084T>C | ENSP00000438254.1:n.-118-1084T>C | |
| ENST00000483584.5:n.228T>C | ||
| ENST00000544766.5:c.-300T>C | ENSP00000440444.1:n.-300T>C | |
| NM_138702.1:c.988T>C MANE Select | NP_619647.1:p.Cys330Arg | |
| NM_177456.2:c.-300T>C | NP_803251.1:n.-300T>C | |
| XM_011531267.1:c.-223T>C | XP_011529569.1:n.-223T>C | |
| XM_011531267.3:c.-223T>C | XP_011529569.1:n.-223T>C | |
| XM_017029265.2:c.-300T>C | XP_016884754.1:n.-300T>C |