Revel Score:
ENST00000336233 (MANE Select)
0.888
ENST00000371837
0.888
ENST00000371829
0.888
ENST00000541980
0.888
ENST00000354621
0.888
ENST00000456827
0.888
ENST00000425287
0.888
ENST00000542307
0.888
ENST00000428800
0.888
ENST00000282673
0.888
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89228334G>T , CM000672.2:g.89228334G>T | GRCh38 |
| NC_000010.10:g.90988091G>T , CM000672.1:g.90988091G>T | GRCh37 |
| NC_000010.9:g.90978071G>T | NCBI36 |
| NG_008194.1:g.28570C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336233.10:c.294C>A MANE Select | ENSP00000337354.5:p.Asn98Lys | |
| ENST00000282673.5:c.294C>A | ENSP00000282673.4:p.Asn98Lys | |
| ENST00000336233.9:c.294C>A | ENSP00000337354.5:p.Asn98Lys | |
| ENST00000371837.5:c.126C>A | ENSP00000360903.1:p.Asn42Lys | |
| ENST00000428800.5:c.294C>A | ENSP00000388415.1:p.Asn98Lys | |
| ENST00000456827.5:c.-55C>A | ENSP00000413019.2:n.-55C>A | |
| NM_000235.3:c.294C>A | NP_000226.2:p.Asn98Lys | |
| NM_001127605.2:c.294C>A | NP_001121077.1:p.Asn98Lys | |
| NM_001288979.1:c.-55C>A | NP_001275908.1:n.-55C>A | |
| XM_024448023.1:c.294C>A | XP_024303791.1:p.Asn98Lys | |
| NM_000235.4:c.294C>A MANE Select | NP_000226.2:p.Asn98Lys | |
| NM_001127605.3:c.294C>A | NP_001121077.1:p.Asn98Lys | |
| NM_001288979.2:c.-55C>A | NP_001275908.1:n.-55C>A |