Revel Score:
ENST00000542917
0.241
ENST00000267163 (MANE Select)
0.241
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48465028G>C , CM000675.2:g.48465028G>C | GRCh38 |
| NC_000013.10:g.49039164G>C , CM000675.1:g.49039164G>C | GRCh37 |
| NC_000013.9:g.47937165G>C | NCBI36 |
| NG_009009.1:g.166282G>C , LRG_517:g.166282G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2242G>C MANE Select | ENSP00000267163.4:p.Glu748Gln | |
| ENST00000643064.1:c.194+83585G>C | ||
| ENST00000650461.1:c.2242G>C | ENSP00000497193.1:p.Glu748Gln | |
| ENST00000267163.4:c.2242G>C | ENSP00000267163.4:p.Glu748Gln | |
| NM_000321.2:c.2242G>C , LRG_517t1:c.2242G>C | NP_000312.2:p.Glu748Gln | |
| XM_011535171.1:c.1981G>C | XP_011533473.1:p.Glu661Gln | |
| XM_011535171.2:c.1981G>C | XP_011533473.1:p.Glu661Gln | |
| NM_000321.3:c.2242G>C MANE Select | NP_000312.2:p.Glu748Gln |