gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63655176 (AFR)
Genomes Max Group AF
0.63655176 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.14692647A>C , CM000670.2:g.14692647A>C | GRCh38 |
| NC_000008.10:g.14550156A>C , CM000670.1:g.14550156A>C | GRCh37 |
| NC_000008.9:g.14594527A>C | NCBI36 |
| NG_008899.1:g.550637T>G , LRG_208:g.550637T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382080.6:c.40-137721T>G MANE Select | ENSP00000371512.1:n.40-137721T>G | |
| ENST00000382080.5:c.40-137721T>G | ENSP00000371512.1:n.40-137721T>G | |
| NM_139167.2:c.40-137721T>G , LRG_208t1:c.40-137721T>G | NP_631906.2:n.40-137721T>G | |
| NM_001322879.1:c.40-137721T>G | NP_001309808.1:n.40-137721T>G | |
| NM_001322880.1:c.40-137721T>G | NP_001309809.1:n.40-137721T>G | |
| NM_001322881.1:c.-89-137721T>G | NP_001309810.1:n.-89-137721T>G | |
| NM_139167.3:c.40-137721T>G | NP_631906.2:n.40-137721T>G | |
| NM_139167.4:c.40-137721T>G MANE Select | NP_631906.2:n.40-137721T>G | |
| NM_001322879.2:c.40-137721T>G | NP_001309808.1:n.40-137721T>G | |
| NM_001322880.2:c.40-137721T>G | NP_001309809.1:n.40-137721T>G | |
| NM_001322881.2:c.-89-137721T>G | NP_001309810.1:n.-89-137721T>G |