gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73746128 (AFR)
Genomes Max Group AF
0.73746128 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.132126844T>C , CM000685.2:g.132126844T>C | GRCh38 |
| NC_000023.10:g.131260872T>C , CM000685.1:g.131260872T>C | GRCh37 |
| NC_000023.9:g.131088553T>C | NCBI36 |
| NG_012347.1:g.6179A>G , LRG_867:g.6179A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298542.9:c.57+944A>G MANE Select | ENSP00000298542.3:n.57+944A>G | |
| ENST00000298542.8:c.57+944A>G | ENSP00000298542.3:n.57+944A>G | |
| ENST00000464296.1:c.57+944A>G | ENSP00000417996.1:n.57+944A>G | |
| NM_001306193.1:c.57+944A>G | NP_001293122.1:n.57+944A>G | |
| NM_194277.2:c.57+944A>G , LRG_867t1:c.57+944A>G | NP_919253.1:n.57+944A>G | |
| XM_017029948.2:c.29+944A>G | XP_016885437.1:n.29+944A>G | |
| NM_001306193.2:c.57+944A>G | NP_001293122.1:n.57+944A>G | |
| NM_194277.3:c.57+944A>G MANE Select | NP_919253.1:n.57+944A>G |