Revel Score:
ENST00000290310 (MANE Select)
0.220
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370562G>C , CM000683.2:g.34370562G>C | GRCh38 |
| NC_000021.8:g.35742861G>C , CM000683.1:g.35742861G>C | GRCh37 |
| NC_000021.7:g.34664731G>C | NCBI36 |
| NG_008804.1:g.11539G>C , LRG_291:g.11539G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290310.4:c.84G>C MANE Select | ENSP00000290310.2:p.Gln28His | |
| ENST00000290310.3:c.84G>C | ENSP00000290310.2:p.Gln28His | |
| NM_172201.1:c.84G>C , LRG_291t1:c.84G>C | NP_751951.1:p.Gln28His | |
| XR_937683.1:n.759C>G | ||
| XR_937684.1:n.759C>G | ||
| XR_001755012.2:n.880C>G | ||
| XR_001755013.2:n.759C>G | ||
| XR_937683.2:n.759C>G | ||
| NM_172201.2:c.84G>C MANE Select | NP_751951.1:p.Gln28His |