gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3131318 (AFR)
Genomes Max Group AF
0.3131318 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.21037185C>T , CM000673.2:g.21037185C>T | GRCh38 |
| NC_000011.9:g.21058731C>T , CM000673.1:g.21058731C>T | GRCh37 |
| NC_000011.8:g.21015307C>T | NCBI36 |
| NG_047064.1:g.372635C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357134.10:c.1301-76404C>T MANE Select | ENSP00000349654.5:n.1301-76404C>T | |
| ENST00000298925.9:c.1385-76404C>T | ENSP00000298925.5:n.1385-76404C>T | |
| ENST00000325319.9:c.1130-76404C>T | ENSP00000317837.5:n.1130-76404C>T | |
| ENST00000357134.9:c.1301-76404C>T | ENSP00000349654.5:n.1301-76404C>T | |
| ENST00000530672.1:n.381-76404C>T | ||
| ENST00000532434.5:c.1301-76404C>T | ENSP00000437170.1:n.1301-76404C>T | |
| ENST00000619031.4:c.581-76404C>T | ENSP00000479479.1:n.581-76404C>T | |
| NM_001288713.1:c.1385-76404C>T | NP_001275642.1:n.1385-76404C>T | |
| NM_001288714.1:c.1130-76404C>T | NP_001275643.1:n.1130-76404C>T | |
| NM_006157.4:c.1301-76404C>T | NP_006148.2:n.1301-76404C>T | |
| NM_201551.2:c.1301-76404C>T | NP_963845.1:n.1301-76404C>T | |
| XM_011520119.1:c.344-76404C>T | XP_011518421.1:n.344-76404C>T | |
| NM_006157.5:c.1301-76404C>T MANE Select | NP_006148.2:n.1301-76404C>T |