Revel Score:
ENST00000221930 (MANE Select)
0.481
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41342218G>C , CM000681.2:g.41342218G>C | GRCh38 |
| NC_000019.9:g.41848123G>C , CM000681.1:g.41848123G>C | GRCh37 |
| NC_000019.8:g.46539963G>C | NCBI36 |
| NG_013364.1:g.16709C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221930.6:c.664C>G MANE Select | ENSP00000221930.4:p.His222Asp | |
| ENST00000600196.2:c.664C>G | ENSP00000504008.1:p.His222Asp | |
| ENST00000677934.1:c.634+2529C>G | ENSP00000504769.1:n.634+2529C>G | |
| ENST00000221930.5:c.664C>G | ENSP00000221930.4:p.His222Asp | |
| ENST00000597453.1:n.195C>G | ||
| ENST00000600196.1:n.124C>G | ||
| NM_000660.5:c.664C>G | NP_000651.3:p.His222Asp | |
| XM_011527242.1:c.664C>G | XP_011525544.1:p.His222Asp | |
| NM_000660.6:c.664C>G | NP_000651.3:p.His222Asp | |
| XM_011527242.2:c.664C>G | XP_011525544.1:p.His222Asp | |
| NM_000660.7:c.664C>G MANE Select | NP_000651.3:p.His222Asp |