gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92955192 (EAS)
Genomes Max Group AF
0.92955192 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43122269A>G , CM000684.2:g.43122269A>G | GRCh38 |
| NC_000022.10:g.43518275A>G , CM000684.1:g.43518275A>G | GRCh37 |
| NC_000022.9:g.41848219A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216115.3:c.-7-1747A>G MANE Select | ENSP00000216115.2:n.-7-1747A>G | |
| ENST00000216115.2:c.-7-1747A>G | ENSP00000216115.2:n.-7-1747A>G | |
| NM_001197.4:c.-7-1747A>G | NP_001188.1:n.-7-1747A>G | |
| NM_001197.5:c.-7-1747A>G MANE Select | NP_001188.1:n.-7-1747A>G |