gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11591313 (MID)
Genomes Max Group AF
0.10290856 (NFE)
Exomes Max Group AF
0.11629908 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6586487T>C , CM000681.2:g.6586487T>C | GRCh38 |
| NC_000019.9:g.6586498T>C , CM000681.1:g.6586498T>C | GRCh37 |
| NC_000019.8:g.6537498T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245903.4:c.197-82A>G MANE Select | ENSP00000245903.2:n.197-82A>G | |
| ENST00000245903.3:c.197-82A>G | ENSP00000245903.2:n.197-82A>G | |
| ENST00000423145.7:c.197-82A>G | ENSP00000395294.2:n.197-82A>G | |
| NM_001252.4:c.197-82A>G | NP_001243.1:n.197-82A>G | |
| NM_001330332.1:c.197-82A>G | NP_001317261.1:n.197-82A>G | |
| NM_001252.5:c.197-82A>G MANE Select | NP_001243.1:n.197-82A>G | |
| NM_001330332.2:c.197-82A>G | NP_001317261.1:n.197-82A>G |