ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007025 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00007225 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149962T>C , CM000665.2:g.10149962T>C | GRCh38 |
| NC_000003.11:g.10191646T>C , CM000665.1:g.10191646T>C | GRCh37 |
| NC_000003.10:g.10166646T>C | NCBI36 |
| NG_008212.3:g.13328T>C , LRG_322:g.13328T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*316T>C | ENSP00000512434.1:n.*316T>C | |
| ENST00000696143.1:c.775T>C | ENSP00000512435.1:n.775T>C | |
| ENST00000696153.1:c.750T>C | ENSP00000512444.1:p.Asp250= | |
| ENST00000256474.3:c.639T>C MANE Select | ENSP00000256474.3:p.Asp213= | |
| ENST00000256474.2:c.639T>C | ENSP00000256474.2:p.Asp213= | |
| ENST00000345392.2:c.516T>C | ENSP00000344757.2:p.Asp172= | |
| ENST00000477538.1:n.775T>C | ||
| NM_000551.3:c.639T>C , LRG_322t1:c.639T>C | NP_000542.1:p.Asp213= | |
| NM_198156.2:c.516T>C | NP_937799.1:p.Asp172= | |
| NM_001354723.1:c.*193T>C | NP_001341652.1:n.*193T>C | |
| NM_000551.4:c.639T>C MANE Select | NP_000542.1:p.Asp213= | |
| NM_001354723.2:c.*193T>C | NP_001341652.1:n.*193T>C | |
| NM_198156.3:c.516T>C | NP_937799.1:p.Asp172= |