gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002532 (NFE)
Genomes Max Group AF
0.00002532 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.6885217T>A , CM000686.2:g.6885217T>A | GRCh38 |
| NC_000024.9:g.6753258T>A , CM000686.1:g.6753258T>A | GRCh37 |
| NC_000024.8:g.6813258T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651267.2:c.-112-11146A>T MANE Select | ENSP00000498344.1:n.-112-11146A>T | |
| ENST00000651267.1:c.-112-11146A>T | ENSP00000498344.1:n.-112-11146A>T | |
| XM_011531472.1:c.-112-11146A>T | XP_011529774.1:n.-112-11146A>T | |
| NM_001143.2:c.-112-11146A>T MANE Select | NP_001134.1:n.-112-11146A>T |