gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2570274 (EAS)
Genomes Max Group AF
0.2570274 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.127939367C>T , CM000672.2:g.127939367C>T | GRCh38 |
| NC_000010.10:g.129737631C>T , CM000672.1:g.129737631C>T | GRCh37 |
| NC_000010.9:g.129627621C>T | NCBI36 |
| NG_029511.1:g.37307C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254667.8:c.-31+32058C>T MANE Select | ENSP00000254667.3:n.-31+32058C>T | |
| ENST00000254667.7:c.-31+32058C>T | ENSP00000254667.3:n.-31+32058C>T | |
| ENST00000442830.5:c.-201-25461C>T | ENSP00000410540.1:n.-201-25461C>T | |
| NM_001316676.1:c.-168-25461C>T | NP_001303605.1:n.-168-25461C>T | |
| NM_006504.4:c.-31+32058C>T | NP_006495.1:n.-31+32058C>T | |
| NM_006504.5:c.-31+32058C>T | NP_006495.1:n.-31+32058C>T | |
| XM_011539993.1:c.53+32058C>T | XP_011538295.1:n.53+32058C>T | |
| XM_011539994.1:c.53+32058C>T | XP_011538296.1:n.53+32058C>T | |
| XM_011539995.1:c.53+32058C>T | XP_011538297.1:n.53+32058C>T | |
| XM_011539996.1:c.53+32058C>T | XP_011538298.1:n.53+32058C>T | |
| XM_011539998.1:c.53+32058C>T | XP_011538300.1:n.53+32058C>T | |
| XR_945793.1:n.234+32058C>T | ||
| NM_001323355.1:c.53+32058C>T | NP_001310284.1:n.53+32058C>T | |
| NM_001323356.1:c.53+32058C>T | NP_001310285.1:n.53+32058C>T | |
| XM_011539994.2:c.53+32058C>T | XP_011538296.1:n.53+32058C>T | |
| XM_017016467.1:c.53+32058C>T | XP_016871956.1:n.53+32058C>T | |
| XM_017016468.2:c.-31+32058C>T | XP_016871957.1:n.-31+32058C>T | |
| XM_017016469.2:c.53+32058C>T | XP_016871958.1:n.53+32058C>T | |
| XM_024448092.1:c.63+8234C>T | XP_024303860.1:n.63+8234C>T | |
| XR_002956995.1:n.234+32058C>T | ||
| NM_001316676.2:c.-168-25461C>T | NP_001303605.1:n.-168-25461C>T | |
| NM_001323355.2:c.53+32058C>T | NP_001310284.1:n.53+32058C>T | |
| NM_001323356.2:c.53+32058C>T | NP_001310285.1:n.53+32058C>T | |
| NM_006504.6:c.-31+32058C>T MANE Select | NP_006495.1:n.-31+32058C>T |