Revel Score:
ENST00000264497
0.676
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122615808G>C , CM000666.2:g.122615808G>C | GRCh38 |
| NC_000004.11:g.123536963G>C , CM000666.1:g.123536963G>C | GRCh37 |
| NC_000004.10:g.123756413G>C | NCBI36 |
| NG_031966.1:g.10250C>G | |
| NG_031966.2:g.10259C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000611104.2:c.234C>G | ENSP00000477555.1:p.Cys78Trp | |
| ENST00000647784.1:n.86C>G | ||
| ENST00000648588.1:c.234C>G MANE Select | ENSP00000497915.1:p.Cys78Trp | |
| ENST00000264497.7:c.234C>G | ENSP00000264497.3:p.Cys78Trp | |
| ENST00000611104.1:c.234C>G | ENSP00000477555.1:p.Cys78Trp | |
| NM_001207006.2:c.234C>G | NP_001193935.1:p.Cys78Trp | |
| NM_021803.3:c.234C>G | NP_068575.1:p.Cys78Trp | |
| NM_021803.4:c.234C>G MANE Select | NP_068575.1:p.Cys78Trp | |
| NM_001207006.3:c.234C>G | NP_001193935.1:p.Cys78Trp |