gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001425 (SAS)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00001583 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7565478C>T , CM000668.2:g.7565478C>T | GRCh38 |
| NC_000006.11:g.7565711C>T , CM000668.1:g.7565711C>T | GRCh37 |
| NC_000006.10:g.7510710C>T | NCBI36 |
| NG_008803.1:g.28842C>T , LRG_423:g.28842C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.897C>T | ENSP00000518230.1:p.Ser299= | |
| ENST00000682228.1:n.221C>T | ||
| ENST00000379802.8:c.897C>T MANE Select | ENSP00000369129.3:p.Ser299= | |
| ENST00000379802.7:c.897C>T | ENSP00000369129.3:p.Ser299= | |
| ENST00000418664.2:c.897C>T | ENSP00000396591.2:p.Ser299= | |
| ENST00000506617.1:n.415C>T | ||
| NM_001008844.1:c.897C>T | NP_001008844.1:p.Ser299= | |
| NM_004415.2:c.897C>T , LRG_423t1:c.897C>T | NP_004406.2:p.Ser299= | |
| XM_011514323.1:c.897C>T | XP_011512625.1:p.Ser299= | |
| NM_001008844.2:c.897C>T | NP_001008844.1:p.Ser299= | |
| NM_001319034.1:c.897C>T | NP_001305963.1:p.Ser299= | |
| NM_004415.3:c.897C>T | NP_004406.2:p.Ser299= | |
| NM_004415.4:c.897C>T MANE Select | NP_004406.2:p.Ser299= | |
| NM_001008844.3:c.897C>T | NP_001008844.1:p.Ser299= | |
| NM_001319034.2:c.897C>T | NP_001305963.1:p.Ser299= |