Revel Score:
ENST00000274813 (MANE Select)
0.950
ENST00000540138
0.950
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00050755 (AFR)
Genomes Max Group AF
0.00046004 (AFR)
Exomes Max Group AF
0.00044402 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49431831C>A , CM000668.2:g.49431831C>A | GRCh38 |
| NC_000006.11:g.49399544C>A , CM000668.1:g.49399544C>A | GRCh37 |
| NC_000006.10:g.49507503C>A | NCBI36 |
| NG_007100.1:g.36309G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.2150G>T MANE Select | ENSP00000274813.3:p.Gly717Val | |
| ENST00000274813.3:c.2150G>T | ENSP00000274813.3:p.Gly717Val | |
| NM_000255.3:c.2150G>T | NP_000246.2:p.Gly717Val | |
| XM_005249143.2:c.2150G>T | XP_005249200.1:p.Gly717Val | |
| XM_005249143.3:c.2150G>T | XP_005249200.1:p.Gly717Val | |
| NM_000255.4:c.2150G>T MANE Select | NP_000246.2:p.Gly717Val |