gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24302418 (AFR)
Genomes Max Group AF
0.24302418 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.34855410T>C , CM000668.2:g.34855410T>C | GRCh38 |
| NC_000006.11:g.34823187T>C , CM000668.1:g.34823187T>C | GRCh37 |
| NC_000006.10:g.34931165T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000192788.6:c.1034-207T>C MANE Select | ENSP00000192788.5:n.1034-207T>C | |
| ENST00000192788.5:c.1034-207T>C | ENSP00000192788.5:n.1034-207T>C | |
| ENST00000452449.6:c.1034-207T>C | ENSP00000400628.2:n.1034-207T>C | |
| NM_017754.3:c.1034-207T>C | NP_060224.3:n.1034-207T>C | |
| XM_006715126.2:c.1034-207T>C | XP_006715189.1:n.1034-207T>C | |
| XM_011514714.1:c.1034-829T>C | XP_011513016.1:n.1034-829T>C | |
| XM_011514715.1:c.38-207T>C | XP_011513017.1:n.38-207T>C | |
| NM_017754.4:c.1034-207T>C MANE Select | NP_060224.3:n.1034-207T>C |