gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67951856 (AFR)
Genomes Max Group AF
0.67951856 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.101241729A>G , CM000677.2:g.101241729A>G | GRCh38 |
| NC_000015.9:g.101781934A>G , CM000677.1:g.101781934A>G | GRCh37 |
| NC_000015.8:g.99599457A>G | NCBI36 |
| NG_031908.1:g.15204T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254190.4:c.321-6152T>C MANE Select | ENSP00000254190.3:n.321-6152T>C | |
| ENST00000254190.3:c.321-6152T>C | ENSP00000254190.3:n.321-6152T>C | |
| ENST00000559384.1:n.70+819T>C | ||
| NM_014918.4:c.321-6152T>C | NP_055733.2:n.321-6152T>C | |
| XM_011521364.1:c.321-6152T>C | XP_011519666.1:n.321-6152T>C | |
| XM_011521364.2:c.321-6152T>C | XP_011519666.1:n.321-6152T>C | |
| NM_014918.5:c.321-6152T>C MANE Select | NP_055733.2:n.321-6152T>C |