gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27522527 (NFE)
Genomes Max Group AF
0.27522527 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.98076353C>T , CM000670.2:g.98076353C>T | GRCh38 |
| NC_000008.10:g.99088581C>T , CM000670.1:g.99088581C>T | GRCh37 |
| NC_000008.9:g.99157757C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318528.8:c.58+11626C>T MANE Select | ENSP00000315614.3:n.58+11626C>T | |
| ENST00000318528.7:c.58+11626C>T | ENSP00000315614.3:n.58+11626C>T | |
| ENST00000545282.1:c.58+11626C>T | ENSP00000440297.1:n.58+11626C>T | |
| NM_001170806.1:c.58+11626C>T | NP_001164277.1:n.58+11626C>T | |
| NM_173549.2:c.58+11626C>T | NP_775820.2:n.58+11626C>T | |
| NM_173549.3:c.58+11626C>T MANE Select | NP_775820.2:n.58+11626C>T | |
| NM_001170806.2:c.58+11626C>T | NP_001164277.1:n.58+11626C>T |