Revel Score:
ENST00000322716 (MANE Select)
0.125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36992201C>G , CM000665.2:g.36992201C>G | GRCh38 |
| NC_000003.11:g.37033692C>G , CM000665.1:g.37033692C>G | GRCh37 |
| NC_000003.10:g.37008696C>G | NCBI36 |
| NG_007109.2:g.3852C>G , LRG_216:g.3852C>G | |
| NG_008418.1:g.6104G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322716.8:c.877G>C MANE Select | ENSP00000406027.1:p.Asp293His | |
| ENST00000322716.7:c.877G>C | ENSP00000406027.1:p.Asp293His | |
| ENST00000623924.1:c.63+677G>C | ||
| ENST00000624586.1:c.68G>C | ||
| NM_014805.3:c.877G>C | NP_055620.1:p.Asp293His | |
| NM_014805.4:c.877G>C MANE Select | NP_055620.1:p.Asp293His |