Revel Score:
ENST00000371817 (MANE Select)
0.872
gnomAD v4:
Joint Max Group AF
0.00000953 (NFE)
Exomes Max Group AF
0.00001012 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134801990G>A , CM000671.2:g.134801990G>A | GRCh38 |
| NC_000009.11:g.137693836G>A , CM000671.1:g.137693836G>A | GRCh37 |
| NC_000009.10:g.136833657G>A | NCBI36 |
| NG_008030.1:g.165185G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.2989G>A | ENSP00000360885.4:p.Gly997Ser | |
| ENST00000371817.8:c.2989G>A MANE Select | ENSP00000360882.3:p.Gly997Ser | |
| ENST00000371817.7:c.2989G>A | ENSP00000360882.3:p.Gly997Ser | |
| ENST00000618395.4:c.2989G>A | ENSP00000481360.1:p.Gly997Ser | |
| NM_000093.4:c.2989G>A | NP_000084.3:p.Gly997Ser | |
| NM_001278074.1:c.2989G>A | NP_001265003.1:p.Gly997Ser | |
| XR_929712.1:n.3391G>A | ||
| XR_929713.1:n.3391G>A | ||
| XM_017014266.2:c.2989G>A | XP_016869755.1:p.Gly997Ser | |
| XR_001746183.1:n.3387G>A | ||
| NM_000093.5:c.2989G>A MANE Select | NP_000084.3:p.Gly997Ser |