Revel Score:
ENST00000249284 (MANE Select)
0.028
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.122995119A>T , CM000669.2:g.122995119A>T | GRCh38 |
| NC_000007.13:g.122635173A>T , CM000669.1:g.122635173A>T | GRCh37 |
| NC_000007.12:g.122422409A>T | NCBI36 |
| NG_011980.1:g.5582T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249284.3:c.516T>A MANE Select | ENSP00000249284.2:p.Asn172Lys | |
| NM_016945.2:c.516T>A | NP_058641.1:p.Asn172Lys | |
| NM_016945.3:c.516T>A MANE Select | NP_058641.1:p.Asn172Lys |