Revel Score:
ENST00000389983
0.014
ENST00000341280
0.014
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.7585823 (SAS)
Genomes Max Group AF
0.74360737 (SAS)
Exomes Max Group AF
0.75839246 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.49997051A>G , CM000684.2:g.49997051A>G | GRCh38 |
| NC_000022.10:g.50435480A>G , CM000684.1:g.50435480A>G | GRCh37 |
| NC_000022.9:g.48777607A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389983.7:c.*1133T>C | ENSP00000374633.3:n.*1133T>C | |
| ENST00000695950.1:c.1281T>C MANE Select | ENSP00000512282.1:p.Ala427= | |
| ENST00000695951.1:c.1214T>C | ENSP00000512283.1:p.Leu405Pro | |
| ENST00000341280.5:c.998T>C | ENSP00000342520.5:p.Leu333Pro | |
| ENST00000389983.6:c.998T>C | ENSP00000374633.2:p.Leu333Pro | |
| NM_001001694.2:c.998T>C | NP_001001694.2:p.Leu333Pro | |
| XM_011530689.1:c.1214T>C | XP_011528991.1:p.Leu405Pro | |
| XM_011530689.2:c.1214T>C | XP_011528991.1:p.Leu405Pro | |
| XM_017028798.1:c.1281T>C | XP_016884287.1:p.Ala427= | |
| XR_001755245.1:n.2462T>C | ||
| NM_001001694.3:c.998T>C | NP_001001694.2:p.Leu333Pro | |
| NM_001371416.1:c.1214T>C | NP_001358345.1:p.Leu405Pro | |
| NM_001371417.1:c.1281T>C MANE Select | NP_001358346.1:p.Ala427= |