Revel Score:
ENST00000205890
0.715
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18145938G>A , CM000679.2:g.18145938G>A | GRCh38 |
| NC_000017.10:g.18049252G>A , CM000679.1:g.18049252G>A | GRCh37 |
| NC_000017.9:g.17989977G>A | NCBI36 |
| NG_011634.1:g.42233G>A | |
| NG_011634.2:g.42233G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.6340G>A MANE Select | ENSP00000495481.1:p.Val2114Met | |
| ENST00000205890.9:c.6340G>A | ENSP00000205890.5:p.Val2114Met | |
| ENST00000615845.4:c.6340G>A | ENSP00000481642.1:p.Val2114Met | |
| NM_016239.3:c.6340G>A | NP_057323.3:p.Val2114Met | |
| XM_011523917.1:c.6280G>A | XP_011522219.1:p.Val2094Met | |
| XM_011523918.1:c.6280G>A | XP_011522220.1:p.Val2094Met | |
| XM_011523921.1:c.6334G>A | XP_011522223.1:p.Val2112Met | |
| XR_934037.1:n.6939G>A | ||
| XR_934038.1:n.6939G>A | ||
| XM_011523918.2:c.6280G>A | XP_011522220.1:p.Val2094Met | |
| XM_017024714.2:c.6280G>A | XP_016880203.1:p.Val2094Met | |
| XM_017024715.2:c.6343G>A | XP_016880204.1:p.Val2115Met | |
| XM_024450781.1:c.6213+1346G>A | XP_024306549.1:n.6213+1346G>A | |
| NM_016239.4:c.6340G>A MANE Select | NP_057323.3:p.Val2114Met |