Revel Score:
ENST00000367559 (MANE Select)
0.092
ENST00000444138
0.092
ENST00000543858
0.092
ENST00000539397
0.092
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.182585574G>T , CM000663.2:g.182585574G>T | GRCh38 |
| NC_000001.10:g.182554709G>T , CM000663.1:g.182554709G>T | GRCh37 |
| NC_000001.9:g.180821332G>T | NCBI36 |
| NG_009024.2:g.6400C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367559.7:c.1233C>A MANE Select | ENSP00000356530.3:p.Ser411Arg | |
| ENST00000539397.1:c.1233C>A | ENSP00000440844.1:p.Ser411Arg | |
| NM_021133.3:c.1233C>A | NP_066956.1:p.Ser411Arg | |
| XM_005245411.2:c.1233C>A | XP_005245468.1:p.Ser411Arg | |
| XR_001737359.1:n.1516C>A | ||
| XR_001737360.1:n.1516C>A | ||
| NM_021133.4:c.1233C>A MANE Select | NP_066956.1:p.Ser411Arg |