gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09618793 (SAS)
Genomes Max Group AF
0.09989639 (SAS)
Exomes Max Group AF
0.09560632 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23783502T>C , CM000684.2:g.23783502T>C | GRCh38 |
| NC_000022.10:g.24125689T>C , CM000684.1:g.24125689T>C | GRCh37 |
| NC_000022.9:g.22455689T>C | NCBI36 |
| NG_009303.1:g.1540T>C , LRG_520:g.1540T>C | |
| NG_029443.1:g.15654T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215743.8:c.1425T>C MANE Select | ENSP00000215743.3:p.Pro475= | |
| ENST00000215743.7:c.1425T>C | ENSP00000215743.3:p.Pro475= | |
| ENST00000437086.5:c.*170T>C | ENSP00000408070.1:n.*170T>C | |
| ENST00000465385.5:n.3009T>C | ||
| ENST00000624319.1:c.457A>G | ENSP00000485053.1:p.Arg153Gly | |
| NM_005940.3:c.1425T>C | NP_005931.2:p.Pro475= | |
| NM_005940.4:c.1425T>C | NP_005931.2:p.Pro475= | |
| NR_133013.1:n.1287T>C | ||
| NM_005940.5:c.1425T>C MANE Select | NP_005931.2:p.Pro475= | |
| NR_133013.2:n.1257T>C |