Revel Score:
ENST00000272895 (MANE Select)
0.925
ENST00000389661
0.925
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214986566T>A , CM000664.2:g.214986566T>A | GRCh38 |
| NC_000002.11:g.215851290T>A , CM000664.1:g.215851290T>A | GRCh37 |
| NC_000002.10:g.215559535T>A | NCBI36 |
| NG_007074.1:g.156862A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.4139A>T MANE Select | ENSP00000272895.7:p.Asn1380Ile | |
| ENST00000272895.11:c.4139A>T | ENSP00000272895.7:p.Asn1380Ile | |
| ENST00000389661.4:c.3185A>T | ENSP00000374312.4:p.Asn1062Ile | |
| NM_015657.3:c.3185A>T | NP_056472.2:p.Asn1062Ile | |
| NM_173076.2:c.4139A>T | NP_775099.2:p.Asn1380Ile | |
| NR_103740.1:n.4439A>T | ||
| XM_011510951.1:c.4148A>T | XP_011509253.1:p.Asn1383Ile | |
| XM_011510952.1:c.4148A>T | XP_011509254.1:p.Asn1383Ile | |
| XM_011510951.2:c.4148A>T | XP_011509253.1:p.Asn1383Ile | |
| NM_173076.3:c.4139A>T MANE Select | NP_775099.2:p.Asn1380Ile | |
| NR_103740.2:n.4637A>T | ||
| NM_015657.4:c.3185A>T | NP_056472.2:p.Asn1062Ile |