Revel Score:
ENST00000308009
0.060
ENST00000447225
0.060
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23661925 (AMR)
Genomes Max Group AF
0.14438792 (AMR)
Exomes Max Group AF
0.27055907 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7042164C>T , CM000679.2:g.7042164C>T | GRCh38 |
| NC_000017.10:g.6945483C>T , CM000679.1:g.6945483C>T | GRCh37 |
| NC_000017.9:g.6886207C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574600.3:c.946G>A MANE Select | ENSP00000460927.2:p.Gly316Ser | |
| ENST00000662352.3:c.946G>A | ENSP00000499634.1:p.Gly316Ser | |
| ENST00000673828.2:c.946G>A | ENSP00000501313.1:p.Gly316Ser | |
| ENST00000308009.5:c.1018G>A | ENSP00000310490.1:p.Gly340Ser | |
| ENST00000447225.1:c.922G>A | ENSP00000394449.1:p.Gly308Ser | |
| ENST00000573338.1:n.678-256G>A | ||
| NM_153357.1:c.1018G>A | NP_699188.1:p.Gly340Ser | |
| XM_005256488.2:c.1303G>A | XP_005256545.2:p.Gly435Ser | |
| XM_005256488.4:c.1303G>A | XP_005256545.2:p.Gly435Ser | |
| XM_017024281.1:c.1303G>A | XP_016879770.1:p.Gly435Ser | |
| XM_017024282.2:c.704-256G>A | XP_016879771.1:n.704-256G>A | |
| NM_153357.2:c.946G>A | NP_699188.2:p.Gly316Ser | |
| NM_001370549.1:c.946G>A MANE Select | NP_001357478.1:p.Gly316Ser | |
| NM_001370553.1:c.946G>A | NP_001357482.1:p.Gly316Ser | |
| NM_153357.3:c.946G>A | NP_699188.2:p.Gly316Ser |