gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.76568989 (AFR)
Genomes Max Group AF
0.76568989 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4830616T>C , CM000681.2:g.4830616T>C | GRCh38 |
| NC_000019.9:g.4830628T>C , CM000681.1:g.4830628T>C | GRCh37 |
| NC_000019.8:g.4781628T>C | NCBI36 |
| NG_031998.1:g.6127A>G , LRG_358:g.6127A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.-140+998A>G MANE Select | ENSP00000248244.4:n.-140+998A>G | |
| ENST00000248244.5:c.-140+998A>G | ENSP00000248244.4:n.-140+998A>G | |
| NM_182919.3:c.-140+998A>G , LRG_358t1:c.-140+998A>G | NP_891549.1:n.-140+998A>G | |
| NM_001385678.1:c.-39+998A>G | NP_001372607.1:n.-39+998A>G | |
| NM_001385679.1:c.-90+998A>G | NP_001372608.1:n.-90+998A>G | |
| NM_001385680.1:c.-205+998A>G | NP_001372609.1:n.-205+998A>G | |
| NM_182919.4:c.-140+998A>G MANE Select | NP_891549.1:n.-140+998A>G |