Revel Score:
ENST00000251595 (MANE Select)
0.930
ENST00000534957
0.930
ENST00000397806
0.930
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173550G>C , CM000678.2:g.173550G>C | GRCh38 |
| NC_000016.9:g.223549G>C , CM000678.1:g.223549G>C | GRCh37 |
| NC_000016.8:g.163549G>C | NCBI36 |
| NG_000006.1:g.34413G>C | |
| NG_059186.1:g.1900G>C | |
| NG_059271.1:g.5704G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.379G>C MANE Select | ENSP00000251595.6:p.Asp127His | |
| ENST00000251595.10:c.379G>C | ENSP00000251595.6:p.Asp127His | |
| ENST00000397806.1:c.283G>C | ENSP00000380908.1:p.Asp95His | |
| ENST00000482565.1:n.515G>C | ||
| NM_000517.4:c.379G>C | NP_000508.1:p.Asp127His | |
| NM_000517.6:c.379G>C MANE Select | NP_000508.1:p.Asp127His |