Revel Score:
ENST00000308009
0.204
ENST00000447225
0.204
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002971 (SAS)
Exomes Max Group AF
0.00003116 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7042164C>A , CM000679.2:g.7042164C>A | GRCh38 |
| NC_000017.10:g.6945483C>A , CM000679.1:g.6945483C>A | GRCh37 |
| NC_000017.9:g.6886207C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574600.3:c.946G>T MANE Select | ENSP00000460927.2:p.Gly316Cys | |
| ENST00000662352.3:c.946G>T | ENSP00000499634.1:p.Gly316Cys | |
| ENST00000673828.2:c.946G>T | ENSP00000501313.1:p.Gly316Cys | |
| ENST00000308009.5:c.1018G>T | ENSP00000310490.1:p.Gly340Cys | |
| ENST00000447225.1:c.922G>T | ENSP00000394449.1:p.Gly308Cys | |
| ENST00000573338.1:n.678-256G>T | ||
| NM_153357.1:c.1018G>T | NP_699188.1:p.Gly340Cys | |
| XM_005256488.2:c.1303G>T | XP_005256545.2:p.Gly435Cys | |
| XM_005256488.4:c.1303G>T | XP_005256545.2:p.Gly435Cys | |
| XM_017024281.1:c.1303G>T | XP_016879770.1:p.Gly435Cys | |
| XM_017024282.2:c.704-256G>T | XP_016879771.1:n.704-256G>T | |
| NM_153357.2:c.946G>T | NP_699188.2:p.Gly316Cys | |
| NM_001370549.1:c.946G>T MANE Select | NP_001357478.1:p.Gly316Cys | |
| NM_001370553.1:c.946G>T | NP_001357482.1:p.Gly316Cys | |
| NM_153357.3:c.946G>T | NP_699188.2:p.Gly316Cys |