gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28122048 (NFE)
Genomes Max Group AF
0.28122048 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.129527035C>T , CM000672.2:g.129527035C>T | GRCh38 |
| NC_000010.10:g.131325299C>T , CM000672.1:g.131325299C>T | GRCh37 |
| NC_000010.9:g.131215289C>T | NCBI36 |
| NG_052673.1:g.64852C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306010.8:c.82-9206C>T | ENSP00000302111.7:n.82-9206C>T | |
| ENST00000651593.1:c.-12-9206C>T MANE Select | ENSP00000498729.1:n.-12-9206C>T | |
| ENST00000306010.7:c.82-9206C>T | ENSP00000302111.7:n.82-9206C>T | |
| ENST00000482547.1:n.36-9206C>T | ||
| ENST00000482653.1:n.69-9206C>T | ||
| NM_002412.3:c.82-9206C>T | NP_002403.2:n.82-9206C>T | |
| NM_002412.4:c.82-9206C>T | NP_002403.2:n.82-9206C>T | |
| XM_005252682.2:c.-12-9206C>T | XP_005252739.1:n.-12-9206C>T | |
| NM_002412.5:c.-12-9206C>T MANE Select | NP_002403.3:n.-12-9206C>T |