Revel Score:
ENST00000261978 (MANE Select)
0.156
ENST00000556690
0.156
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000947 (SAS)
Exomes Max Group AF
0.00001005 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74529111T>C , CM000676.2:g.74529111T>C | GRCh38 |
| NC_000014.8:g.74995814T>C , CM000676.1:g.74995814T>C | GRCh37 |
| NC_000014.7:g.74065567T>C | NCBI36 |
| NG_021486.1:g.88221A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261978.9:c.1999A>G MANE Select | ENSP00000261978.4:p.Ile667Val | |
| ENST00000261978.8:c.1999A>G | ENSP00000261978.4:p.Ile667Val | |
| ENST00000553939.5:c.1999A>G | ENSP00000452110.1:p.Ile667Val | |
| ENST00000556690.5:c.1999A>G | ENSP00000451477.1:p.Ile667Val | |
| NM_000428.2:c.1999A>G | NP_000419.1:p.Ile667Val | |
| XM_011536765.1:c.1988-1745A>G | XP_011535067.1:n.1988-1745A>G | |
| XM_011536766.1:c.1540A>G | XP_011535068.1:p.Ile514Val | |
| XM_011536767.1:c.1516A>G | XP_011535069.1:p.Ile506Val | |
| XM_011536765.2:c.1988-1745A>G | XP_011535067.1:n.1988-1745A>G | |
| NM_000428.3:c.1999A>G MANE Select | NP_000419.1:p.Ile667Val |