ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00097399 (SAS)
Genomes Max Group AF
0.00016877 (SAS)
Exomes Max Group AF
0.00099663 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31147086T>C , CM000670.2:g.31147086T>C | GRCh38 |
| NC_000008.10:g.31004602T>C , CM000670.1:g.31004602T>C | GRCh37 |
| NC_000008.9:g.31124144T>C | NCBI36 |
| NG_008870.1:g.118825T>C , LRG_524:g.118825T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.3417T>C MANE Select | ENSP00000298139.5:p.Ser1139= | |
| ENST00000650667.1:c.*3031T>C | ENSP00000498593.1:n.*3031T>C | |
| ENST00000298139.5:c.3417T>C | ENSP00000298139.5:p.Ser1139= | |
| ENST00000521620.5:n.2050T>C | ||
| NM_000553.4:c.3417T>C , LRG_524t1:c.3417T>C | NP_000544.2:p.Ser1139= | |
| XM_011544639.1:c.3336T>C | XP_011542941.1:p.Ser1112= | |
| XM_011544640.1:c.1818T>C | XP_011542942.1:p.Ser606= | |
| XR_949470.1:n.3690T>C | ||
| XR_949471.1:n.3690T>C | ||
| XR_949472.1:n.3690T>C | ||
| XR_949643.1:n.614+1422A>G | ||
| NM_000553.5:c.3417T>C | NP_000544.2:p.Ser1139= | |
| XM_011544639.3:c.3336T>C | XP_011542941.1:p.Ser1112= | |
| XM_024447265.1:c.3207T>C | XP_024303033.1:p.Ser1069= | |
| XR_949470.3:n.3718T>C | ||
| XR_949471.3:n.3718T>C | ||
| XR_949472.3:n.3718T>C | ||
| NM_000553.6:c.3417T>C MANE Select | NP_000544.2:p.Ser1139= |