Revel Score:
ENST00000244601
0.055
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26216572C>A , CM000668.2:g.26216572C>A | GRCh38 |
| NC_000006.11:g.26216800C>A , CM000668.1:g.26216800C>A | GRCh37 |
| NC_000006.10:g.26324779C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541790.4:c.72G>T MANE Select | ENSP00000445633.2:p.Lys24Asn | |
| ENST00000541790.3:c.72G>T | ENSP00000445633.2:p.Lys24Asn | |
| NM_003518.3:c.72G>T | NP_003509.1:p.Lys24Asn | |
| NM_003518.4:c.72G>T MANE Select | NP_003509.1:p.Lys24Asn |