dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003309 (EAS)
Exomes Max Group AF
0.00003849 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.39922470C>T , CM000670.2:g.39922470C>T | GRCh38 |
| NC_000008.10:g.39779989C>T , CM000670.1:g.39779989C>T | GRCh37 |
| NC_000008.9:g.39899146C>T | NCBI36 |
| NG_028155.1:g.13662C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518237.6:c.438-82C>T MANE Select | ENSP00000430950.1:n.438-82C>T | |
| ENST00000253513.11:c.434-82C>T | ENSP00000253513.7:n.434-82C>T | |
| ENST00000518237.5:c.438-82C>T | ENSP00000430950.1:n.438-82C>T | |
| ENST00000519154.5:c.438-82C>T | ENSP00000428716.1:n.438-82C>T | |
| ENST00000521636.1:n.341-82C>T | ||
| ENST00000522495.5:c.438-82C>T | ENSP00000430505.1:n.438-82C>T | |
| NM_002164.5:c.438-82C>T | NP_002155.1:n.438-82C>T | |
| NM_002164.6:c.438-82C>T MANE Select | NP_002155.1:n.438-82C>T |