gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73374672 (EAS)
Genomes Max Group AF
0.73374672 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71028147C>T , CM000666.2:g.71028147C>T | GRCh38 |
| NC_000004.11:g.71893864C>T , CM000666.1:g.71893864C>T | GRCh37 |
| NC_000004.10:g.72112728C>T | NCBI36 |
| NG_023303.1:g.39600C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286648.10:c.757-1205C>T MANE Select | ENSP00000286648.5:n.757-1205C>T | |
| ENST00000286648.9:c.757-1205C>T | ENSP00000286648.5:n.757-1205C>T | |
| ENST00000503359.5:c.*701-1205C>T | ENSP00000426389.1:n.*701-1205C>T | |
| ENST00000504730.5:c.*41-1205C>T | ENSP00000425578.1:n.*41-1205C>T | |
| ENST00000504952.1:c.757-476C>T | ENSP00000421508.1:n.757-476C>T | |
| NM_000788.2:c.757-1205C>T | NP_000779.1:n.757-1205C>T | |
| NM_000788.3:c.757-1205C>T MANE Select | NP_000779.1:n.757-1205C>T |