Revel Score:
ENST00000272895 (MANE Select)
0.080
ENST00000389661
0.080
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214980519A>T , CM000664.2:g.214980519A>T | GRCh38 |
| NC_000002.11:g.215845243A>T , CM000664.1:g.215845243A>T | GRCh37 |
| NC_000002.10:g.215553488A>T | NCBI36 |
| NG_007074.1:g.162909T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.4704T>A MANE Select | ENSP00000272895.7:p.Phe1568Leu | |
| ENST00000272895.11:c.4704T>A | ENSP00000272895.7:p.Phe1568Leu | |
| ENST00000389661.4:c.3750T>A | ENSP00000374312.4:p.Phe1250Leu | |
| NM_015657.3:c.3750T>A | NP_056472.2:p.Phe1250Leu | |
| NM_173076.2:c.4704T>A | NP_775099.2:p.Phe1568Leu | |
| NR_103740.1:n.5004T>A | ||
| XM_011510951.1:c.4713T>A | XP_011509253.1:p.Phe1571Leu | |
| XM_011510952.1:c.4713T>A | XP_011509254.1:p.Phe1571Leu | |
| XM_011510951.2:c.4713T>A | XP_011509253.1:p.Phe1571Leu | |
| NM_173076.3:c.4704T>A MANE Select | NP_775099.2:p.Phe1568Leu | |
| NR_103740.2:n.5202T>A | ||
| NM_015657.4:c.3750T>A | NP_056472.2:p.Phe1250Leu |