Revel Score:
ENST00000551896
0.043
ENST00000301466 (MANE Select)
0.043
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18334192 (EAS)
Genomes Max Group AF
0.15111956 (EAS)
Exomes Max Group AF
0.18689989 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53103618A>G , CM000674.2:g.53103618A>G | GRCh38 |
| NC_000012.11:g.53497402A>G , CM000674.1:g.53497402A>G | GRCh37 |
| NC_000012.10:g.51783669A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301466.8:c.41A>G MANE Select | ENSP00000301466.3:p.Glu14Gly | |
| ENST00000301466.7:c.41A>G | ENSP00000301466.3:p.Glu14Gly | |
| ENST00000542365.1:c.41A>G | ENSP00000442234.1:p.Glu14Gly | |
| ENST00000551896.5:c.41A>G | ENSP00000450120.1:p.Glu14Gly | |
| NM_003578.3:c.41A>G | NP_003569.1:p.Glu14Gly | |
| XM_011538849.1:c.41A>G | XP_011537151.1:p.Glu14Gly | |
| XM_011538850.1:c.41A>G | XP_011537152.1:p.Glu14Gly | |
| XM_011538851.1:c.41A>G | XP_011537153.1:p.Glu14Gly | |
| XR_944775.1:n.1014A>G | ||
| XR_944777.1:n.1115A>G | ||
| XR_944778.1:n.1019A>G | ||
| NM_003578.4:c.41A>G MANE Select | NP_003569.1:p.Glu14Gly |