Revel Score:
ENST00000304611 (MANE Select)
0.924
ENST00000244546
0.924
gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42978492C>A , CM000668.2:g.42978492C>A | GRCh38 |
| NC_000006.11:g.42946230C>A , CM000668.1:g.42946230C>A | GRCh37 |
| NC_000006.10:g.43054208C>A | NCBI36 |
| NG_008370.1:g.5752G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.659G>T MANE Select | ENSP00000303511.8:p.Gly220Val | |
| ENST00000244546.4:c.659G>T | ENSP00000244546.4:p.Gly220Val | |
| ENST00000304611.12:c.659G>T | ENSP00000303511.8:p.Gly220Val | |
| NM_000287.3:c.659G>T | NP_000278.3:p.Gly220Val | |
| NM_001316313.1:c.618+41G>T | NP_001303242.1:n.618+41G>T | |
| NR_133009.1:n.752G>T | ||
| XM_011514661.1:c.659G>T | XP_011512963.1:p.Gly220Val | |
| XR_926246.1:n.752G>T | ||
| XM_011514661.2:c.659G>T | XP_011512963.1:p.Gly220Val | |
| XR_001743466.2:n.1733G>T | ||
| NM_000287.4:c.659G>T MANE Select | NP_000278.3:p.Gly220Val | |
| NM_001316313.2:c.618+41G>T | NP_001303242.1:n.618+41G>T | |
| NR_133009.2:n.690G>T |