Revel Score:
ENST00000320868 (MANE Select)
0.810
ENST00000397797
0.810
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177133G>C , CM000678.2:g.177133G>C | GRCh38 |
| NC_000016.9:g.227132G>C , CM000678.1:g.227132G>C | GRCh37 |
| NC_000016.8:g.167132G>C | NCBI36 |
| NG_000006.1:g.37996G>C | |
| NG_059186.1:g.5483G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.300G>C MANE Select | ENSP00000322421.5:p.Lys100Asn | |
| ENST00000397797.1:c.204G>C | ENSP00000380899.1:p.Lys68Asn | |
| ENST00000472694.1:n.436G>C | ||
| ENST00000487791.1:n.269G>C | ||
| NM_000558.4:c.300G>C | NP_000549.1:p.Lys100Asn | |
| NM_000558.5:c.300G>C MANE Select | NP_000549.1:p.Lys100Asn |