gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.80374349 (AFR)
Genomes Max Group AF
0.80374349 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36803762A>G , CM000684.2:g.36803762A>G | GRCh38 |
| NC_000022.10:g.37199806A>G , CM000684.1:g.37199806A>G | GRCh37 |
| NC_000022.9:g.35529752A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417718.7:c.305-2844T>C MANE Select | ENSP00000400247.2:n.305-2844T>C | |
| ENST00000216200.9:c.305-2844T>C | ENSP00000216200.5:n.305-2844T>C | |
| ENST00000404171.1:c.209-2844T>C | ENSP00000386089.1:n.209-2844T>C | |
| ENST00000406910.6:c.351-2844T>C | ||
| ENST00000417718.6:c.305-2844T>C | ENSP00000400247.2:n.305-2844T>C | |
| NM_001315532.1:c.305-2844T>C | NP_001302461.1:n.305-2844T>C | |
| NM_002854.2:c.305-2844T>C | NP_002845.1:n.305-2844T>C | |
| NM_001315532.2:c.305-2844T>C MANE Select | NP_001302461.1:n.305-2844T>C | |
| NM_002854.3:c.305-2844T>C | NP_002845.1:n.305-2844T>C |