Revel Score:
ENST00000356840 (MANE Select)
0.094
ENST00000349606
0.094
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.16145094A>T , CM000668.2:g.16145094A>T | GRCh38 |
| NC_000006.11:g.16145325A>T , CM000668.1:g.16145325A>T | GRCh37 |
| NC_000006.10:g.16253304A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356840.8:c.1025A>T MANE Select | ENSP00000349298.3:p.Asn342Ile | |
| ENST00000349606.4:c.482A>T | ENSP00000008686.5:p.Asn161Ile | |
| ENST00000356840.7:c.1025A>T | ENSP00000349298.3:p.Asn342Ile | |
| NM_013262.3:c.1025A>T | NP_037394.2:p.Asn342Ile | |
| XM_005249032.2:c.860A>T | XP_005249089.1:p.Asn287Ile | |
| XM_005249033.2:c.482A>T | XP_005249090.1:p.Asn161Ile | |
| XM_005249033.3:c.482A>T | XP_005249090.1:p.Asn161Ile | |
| XM_017010789.1:c.1025A>T | XP_016866278.1:p.Asn342Ile | |
| NM_013262.4:c.1025A>T MANE Select | NP_037394.2:p.Asn342Ile |