gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00037919 (AFR)
Genomes Max Group AF
0.00029899 (AFR)
Exomes Max Group AF
0.00037105 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71818680A>G , CM000672.2:g.71818680A>G | GRCh38 |
| NC_000010.10:g.73578437A>G , CM000672.1:g.73578437A>G | GRCh37 |
| NC_000010.9:g.73248443A>G | NCBI36 |
| NG_009301.1:g.37646T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.1476T>C MANE Select | ENSP00000378394.3:p.Thr492= | |
| ENST00000394934.4:c.1485T>C | ENSP00000378392.2:p.Thr495= | |
| ENST00000394936.7:c.1476T>C | ENSP00000378394.3:p.Thr492= | |
| ENST00000495196.1:n.286T>C | ||
| ENST00000610929.3:c.624T>C | ENSP00000480857.1:p.Thr208= | |
| NM_001042465.1:c.1485T>C | NP_001035930.1:p.Thr495= | |
| NM_001042466.1:c.1482T>C | NP_001035931.1:p.Thr494= | |
| NM_002778.2:c.1476T>C | NP_002769.1:p.Thr492= | |
| NM_001042465.2:c.1485T>C | NP_001035930.1:p.Thr495= | |
| NM_001042466.2:c.1482T>C | NP_001035931.1:p.Thr494= | |
| NM_002778.3:c.1476T>C | NP_002769.1:p.Thr492= | |
| NM_002778.4:c.1476T>C MANE Select | NP_002769.1:p.Thr492= | |
| NM_001042465.3:c.1485T>C | NP_001035930.1:p.Thr495= | |
| NM_001042466.3:c.1482T>C | NP_001035931.1:p.Thr494= |