gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26141841 (NFE)
Genomes Max Group AF
0.26141841 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207698945T>C , CM000663.2:g.207698945T>C | GRCh38 |
| NC_000001.10:g.207872290T>C , CM000663.1:g.207872290T>C | GRCh37 |
| NC_000001.9:g.205938913T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508064.7:c.1143-244T>C MANE Select | ENSP00000421736.2:n.1143-244T>C | |
| ENST00000294997.10:c.975-244T>C | ENSP00000434864.1:n.975-244T>C | |
| ENST00000508064.6:c.1143-244T>C | ENSP00000421736.2:n.1143-244T>C | |
| ENST00000530905.1:n.494-11437T>C | ||
| NM_175710.1:c.1143-244T>C | NP_783641.1:n.1143-244T>C | |
| NM_175710.2:c.1143-244T>C MANE Select | NP_783641.1:n.1143-244T>C |