Revel Score:
ENST00000421109
0.936
ENST00000394166 (MANE Select)
0.936
ENST00000394171
0.936
ENST00000453270
0.936
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.96334247A>T , CM000677.2:g.96334247A>T | GRCh38 |
| NC_000015.9:g.96877476A>T , CM000677.1:g.96877476A>T | GRCh37 |
| NC_000015.8:g.94678480A>T | NCBI36 |
| NG_016753.1:g.13320A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394166.8:c.614A>T MANE Select | ENSP00000377721.3:p.Asn205Ile | |
| ENST00000394166.7:c.614A>T | ENSP00000377721.3:p.Asn205Ile | |
| ENST00000394171.6:c.155A>T | ENSP00000377726.2:p.Asn52Ile | |
| ENST00000421109.6:c.215A>T | ENSP00000401674.2:p.Asn72Ile | |
| ENST00000453270.2:c.155A>T | ENSP00000389853.2:p.Asn52Ile | |
| ENST00000559679.1:c.155A>T | ENSP00000457112.1:p.Asn52Ile | |
| NM_001145155.1:c.215A>T | NP_001138627.1:p.Asn72Ile | |
| NM_001145156.1:c.155A>T | NP_001138628.1:p.Asn52Ile | |
| NM_001145157.1:c.155A>T | NP_001138629.1:p.Asn52Ile | |
| NM_021005.3:c.614A>T | NP_066285.1:p.Asn205Ile | |
| NM_021005.4:c.614A>T MANE Select | NP_066285.1:p.Asn205Ile | |
| NM_001145155.2:c.215A>T | NP_001138627.1:p.Asn72Ile | |
| NM_001145157.2:c.155A>T | NP_001138629.1:p.Asn52Ile |