gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0007868 (SAS)
Genomes Max Group AF
0.00019845 (AMR)
Exomes Max Group AF
0.00081493 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241500602T>A , CM000663.2:g.241500602T>A | GRCh38 |
| NC_000001.10:g.241663902T>A , CM000663.1:g.241663902T>A | GRCh37 |
| NC_000001.9:g.239730525T>A | NCBI36 |
| NG_012338.1:g.24153A>T , LRG_504:g.24153A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1740-12A>T | ||
| ENST00000682162.1:c.1266-12A>T | ENSP00000508203.1:n.1266-12A>T | |
| ENST00000682567.1:n.4625A>T | ||
| ENST00000683521.1:c.1237-12A>T | ENSP00000506864.1:n.1237-12A>T | |
| ENST00000684161.1:n.2452-12A>T | ||
| ENST00000684483.1:c.*633-12A>T | ENSP00000507894.1:n.*633-12A>T | |
| ENST00000366560.4:c.1237-12A>T MANE Select | ENSP00000355518.4:n.1237-12A>T | |
| ENST00000366560.3:c.1237-12A>T | ENSP00000355518.3:n.1237-12A>T | |
| NM_000143.3:c.1237-12A>T , LRG_504t1:c.1237-12A>T | NP_000134.2:n.1237-12A>T | |
| XM_011544132.1:c.1009-12A>T | XP_011542434.1:n.1009-12A>T | |
| XM_011544132.2:c.1009-12A>T | XP_011542434.1:n.1009-12A>T | |
| NM_000143.4:c.1237-12A>T MANE Select | NP_000134.2:n.1237-12A>T |