Revel Score:
ENST00000394936 (MANE Select)
0.925
ENST00000373120
0.925
ENST00000357471
0.925
ENST00000394934
0.925
ENST00000394929
0.925
ENST00000404083
0.925
ENST00000394940
0.925
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71831244A>T , CM000672.2:g.71831244A>T | GRCh38 |
| NC_000010.10:g.73591001A>T , CM000672.1:g.73591001A>T | GRCh37 |
| NC_000010.9:g.73261007A>T | NCBI36 |
| NG_009301.1:g.25082T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.257T>A MANE Select | ENSP00000378394.3:p.Ile86Asn | |
| ENST00000394934.4:c.257T>A | ENSP00000378392.2:p.Ile86Asn | |
| ENST00000394936.7:c.257T>A | ENSP00000378394.3:p.Ile86Asn | |
| ENST00000610929.3:c.257T>A | ENSP00000480857.1:p.Ile86Asn | |
| NM_001042465.1:c.257T>A | NP_001035930.1:p.Ile86Asn | |
| NM_001042466.1:c.257T>A | NP_001035931.1:p.Ile86Asn | |
| NM_002778.2:c.257T>A | NP_002769.1:p.Ile86Asn | |
| NM_001042465.2:c.257T>A | NP_001035930.1:p.Ile86Asn | |
| NM_001042466.2:c.257T>A | NP_001035931.1:p.Ile86Asn | |
| NM_002778.3:c.257T>A | NP_002769.1:p.Ile86Asn | |
| NM_002778.4:c.257T>A MANE Select | NP_002769.1:p.Ile86Asn | |
| NM_001042465.3:c.257T>A | NP_001035930.1:p.Ile86Asn | |
| NM_001042466.3:c.257T>A | NP_001035931.1:p.Ile86Asn |