gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003259 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00003257 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71821987C>T , CM000672.2:g.71821987C>T | GRCh38 |
| NC_000010.10:g.73581744C>T , CM000672.1:g.73581744C>T | GRCh37 |
| NC_000010.9:g.73251750C>T | NCBI36 |
| NG_009301.1:g.34339G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.798G>A MANE Select | ENSP00000378394.3:p.Ala266= | |
| ENST00000394934.4:c.807G>A | ENSP00000378392.2:p.Ala269= | |
| ENST00000394936.7:c.798G>A | ENSP00000378394.3:p.Ala266= | |
| ENST00000493143.1:n.219G>A | ||
| ENST00000610929.3:c.271-2204G>A | ENSP00000480857.1:n.271-2204G>A | |
| ENST00000633965.1:c.208G>A | ||
| NM_001042465.1:c.807G>A | NP_001035930.1:p.Ala269= | |
| NM_001042466.1:c.804G>A | NP_001035931.1:p.Ala268= | |
| NM_002778.2:c.798G>A | NP_002769.1:p.Ala266= | |
| NM_001042465.2:c.807G>A | NP_001035930.1:p.Ala269= | |
| NM_001042466.2:c.804G>A | NP_001035931.1:p.Ala268= | |
| NM_002778.3:c.798G>A | NP_002769.1:p.Ala266= | |
| NM_002778.4:c.798G>A MANE Select | NP_002769.1:p.Ala266= | |
| NM_001042465.3:c.807G>A | NP_001035930.1:p.Ala269= | |
| NM_001042466.3:c.804G>A | NP_001035931.1:p.Ala268= |