ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002255 (AMR)
Exomes Max Group AF
0.00001779 (AMR)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.48127819G>T , CM000673.2:g.48127819G>T | GRCh38 |
| NC_000011.9:g.48149371G>T , CM000673.1:g.48149371G>T | GRCh37 |
| NC_000011.8:g.48105947G>T | NCBI36 |
| NG_012209.1:g.152262G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698881.1:c.1475G>T | ENSP00000514003.1:p.Ser492Ile | |
| ENST00000418331.7:c.1133G>T MANE Select | ENSP00000400010.2:p.Ser378Ile | |
| ENST00000418331.6:c.1133G>T | ENSP00000400010.2:p.Ser378Ile | |
| ENST00000440289.6:c.1133G>T | ENSP00000409733.2:p.Ser378Ile | |
| ENST00000613246.4:c.1133G>T | ENSP00000477933.1:p.Ser378Ile | |
| ENST00000615445.4:c.1133G>T | ENSP00000479342.1:p.Ser378Ile | |
| NM_001098503.1:c.1133G>T | NP_001091973.1:p.Ser378Ile | |
| NM_002843.3:c.1133G>T | NP_002834.3:p.Ser378Ile | |
| XM_011520249.1:c.1166G>T | XP_011518551.1:p.Ser389Ile | |
| XR_930883.1:n.1483G>T | ||
| XM_017018083.1:c.1211G>T | XP_016873572.1:p.Ser404Ile | |
| XM_017018084.1:c.1154G>T | XP_016873573.1:p.Ser385Ile | |
| XM_017018085.1:c.1085G>T | XP_016873574.1:p.Ser362Ile | |
| XR_930883.2:n.1542G>T | ||
| NM_002843.4:c.1133G>T MANE Select | NP_002834.3:p.Ser378Ile | |
| NM_001098503.2:c.1133G>T | NP_001091973.1:p.Ser378Ile |