gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54818656 (EAS)
Genomes Max Group AF
0.54818656 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.116545157C>A , CM000663.2:g.116545157C>A | GRCh38 |
| NC_000001.10:g.117087779C>A , CM000663.1:g.117087779C>A | GRCh37 |
| NC_000001.9:g.116889302C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369489.10:c.71-553G>T MANE Select | ENSP00000358501.5:n.71-553G>T | |
| ENST00000369487.3:c.71-553G>T | ENSP00000358499.3:n.71-553G>T | |
| ENST00000369489.9:c.71-553G>T | ENSP00000358501.5:n.71-553G>T | |
| ENST00000457047.6:c.71-553G>T | ENSP00000409080.2:n.71-553G>T | |
| ENST00000464088.5:c.71-553G>T | ENSP00000432773.1:n.71-553G>T | |
| NM_001144822.1:c.71-553G>T | NP_001138294.1:n.71-553G>T | |
| NM_001779.2:c.71-553G>T | NP_001770.1:n.71-553G>T | |
| NR_026665.1:n.192-553G>T | ||
| XR_947739.1:n.210+333C>A | ||
| XR_947740.1:n.210+333C>A | ||
| XM_017002869.2:c.71-553G>T | XP_016858358.1:n.71-553G>T | |
| NM_001779.3:c.71-553G>T MANE Select | NP_001770.1:n.71-553G>T | |
| NR_026665.2:n.125-553G>T | ||
| NM_001144822.2:c.71-553G>T | NP_001138294.1:n.71-553G>T |