Revel Score:
ENST00000378802 (MANE Select)
0.638
ENST00000274118
0.638
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186197596T>C , CM000666.2:g.186197596T>C | GRCh38 |
| NC_000004.11:g.187118750T>C , CM000666.1:g.187118750T>C | GRCh37 |
| NC_000004.10:g.187355744T>C | NCBI36 |
| NG_007965.1:g.11077T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.668T>C MANE Select | ENSP00000368079.4:p.Val223Ala | |
| ENST00000378802.4:c.668T>C | ENSP00000368079.4:p.Val223Ala | |
| ENST00000507209.5:n.1509T>C | ||
| NM_207352.3:c.668T>C | NP_997235.3:p.Val223Ala | |
| XM_005262935.2:c.668T>C | XP_005262992.1:p.Val223Ala | |
| XM_006714184.2:c.272T>C | XP_006714247.1:p.Val91Ala | |
| XM_005262935.4:c.668T>C | XP_005262992.1:p.Val223Ala | |
| XM_017008037.1:c.272T>C | XP_016863526.1:p.Val91Ala | |
| NM_207352.4:c.668T>C MANE Select | NP_997235.3:p.Val223Ala |