gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20514812 (AFR)
Genomes Max Group AF
0.20514812 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45112961C>T , CM000676.2:g.45112961C>T | GRCh38 |
| NC_000014.8:g.45582164C>T , CM000676.1:g.45582164C>T | GRCh37 |
| NC_000014.7:g.44651914C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355765.11:c.1757+459C>T MANE Select | ENSP00000348010.6:n.1757+459C>T | |
| ENST00000355765.10:c.1757+459C>T | ENSP00000348010.6:n.1757+459C>T | |
| ENST00000424478.5:c.*1633+459C>T | ENSP00000390867.1:n.*1633+459C>T | |
| ENST00000477626.5:n.2566+459C>T | ||
| ENST00000554081.5:c.1601+459C>T | ||
| ENST00000554429.5:c.*1576+459C>T | ENSP00000451331.1:n.*1576+459C>T | |
| ENST00000554439.5:c.*1530+459C>T | ENSP00000451334.1:n.*1530+459C>T | |
| ENST00000554785.1:n.943+459C>T | ||
| NM_017922.3:c.1757+459C>T | NP_060392.3:n.1757+459C>T | |
| NM_017922.4:c.1757+459C>T MANE Select | NP_060392.3:n.1757+459C>T |