Revel Score:
ENST00000354484
0.818
ENST00000393061
0.818
ENST00000393060
0.818
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133570346G>A , CM000671.2:g.133570346G>A | GRCh38 |
| NC_000009.11:g.136435468G>A , CM000671.1:g.136435468G>A | GRCh37 |
| NC_000009.10:g.135425289G>A | NCBI36 |
| NG_009931.1:g.43183G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651351.2:c.2431G>A MANE Select | ENSP00000498961.2:p.Gly811Arg | |
| ENST00000354484.8:c.2431G>A | ENSP00000346478.4:p.Gly811Arg | |
| ENST00000393060.1:c.2431G>A | ENSP00000376780.1:p.Gly811Arg | |
| ENST00000393061.7:c.2758G>A | ENSP00000376781.3:p.Gly920Arg | |
| NM_001145320.1:c.2431G>A | NP_001138792.1:p.Gly811Arg | |
| NM_014694.3:c.2431G>A | NP_055509.2:p.Gly811Arg | |
| XM_005272237.2:c.2758G>A | XP_005272294.1:p.Gly920Arg | |
| XM_005272238.2:c.2461G>A | XP_005272295.1:p.Gly821Arg | |
| XM_005272239.2:c.2431G>A | XP_005272296.1:p.Gly811Arg | |
| XM_006717337.2:c.2431G>A | XP_006717400.1:p.Gly811Arg | |
| XM_011519241.1:c.2314G>A | XP_011517543.1:p.Gly772Arg | |
| XM_011519242.1:c.2497G>A | XP_011517544.1:p.Gly833Arg | |
| XM_005272237.3:c.2758G>A | XP_005272294.1:p.Gly920Arg | |
| XM_005272238.3:c.2461G>A | XP_005272295.1:p.Gly821Arg | |
| XM_011519241.2:c.2641G>A | XP_011517543.2:p.Gly881Arg | |
| XM_011519242.3:c.2497G>A | XP_011517544.1:p.Gly833Arg | |
| NM_014694.4:c.2431G>A MANE Select | NP_055509.2:p.Gly811Arg | |
| NM_001145320.2:c.2431G>A | NP_001138792.1:p.Gly811Arg |