gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58768485 (SAS)
Genomes Max Group AF
0.58768485 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.63825149C>T , CM000673.2:g.63825149C>T | GRCh38 |
| NC_000011.9:g.63592621C>T , CM000673.1:g.63592621C>T | GRCh37 |
| NC_000011.8:g.63349197C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294244.9:c.935-1779C>T MANE Select | ENSP00000294244.3:n.935-1779C>T | |
| ENST00000294244.8:c.935-1779C>T | ENSP00000294244.3:n.935-1779C>T | |
| NM_138471.2:c.935-1779C>T | NP_612480.1:n.935-1779C>T | |
| XM_006718437.1:c.993-1779C>T | XP_006718500.1:n.993-1779C>T | |
| XM_011544770.1:c.993-1817C>T | XP_011543072.1:n.993-1817C>T | |
| XM_011544771.1:c.867-1817C>T | XP_011543073.1:n.867-1817C>T | |
| XM_011544772.1:c.935-1817C>T | XP_011543074.1:n.935-1817C>T | |
| XR_001747777.1:n.1466-1779C>T | ||
| NM_138471.3:c.935-1779C>T MANE Select | NP_612480.1:n.935-1779C>T |