gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54642059 (AMR)
Genomes Max Group AF
0.49308952 (AMR)
Exomes Max Group AF
0.56228887 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.99691904C>T , CM000676.2:g.99691904C>T | GRCh38 |
| NC_000014.8:g.100158241C>T , CM000676.1:g.100158241C>T | GRCh37 |
| NC_000014.7:g.99227994C>T | NCBI36 |
| NG_007963.1:g.12487C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261835.8:c.282+43C>T MANE Select | ENSP00000261835.3:n.282+43C>T | |
| ENST00000261835.7:c.282+43C>T | ENSP00000261835.3:n.282+43C>T | |
| ENST00000380228.6:c.-10+43C>T | ENSP00000369577.3:n.-10+43C>T | |
| ENST00000554611.5:c.282+43C>T | ENSP00000451069.1:n.282+43C>T | |
| NM_006668.1:c.282+43C>T | NP_006659.1:n.282+43C>T | |
| XM_011536364.1:c.282+43C>T | XP_011534666.1:n.282+43C>T | |
| XM_017020933.2:c.125+43C>T | XP_016876422.1:n.125+43C>T | |
| NM_006668.2:c.282+43C>T MANE Select | NP_006659.1:n.282+43C>T |