gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002823 (AFR)
Genomes Max Group AF
0.00003245 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97855151A>T , CM000671.2:g.97855151A>T | GRCh38 |
| NC_000009.11:g.100617433A>T , CM000671.1:g.100617433A>T | GRCh37 |
| NC_000009.10:g.99657254A>T | NCBI36 |
| NG_011979.1:g.6897A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375123.5:c.*115A>T MANE Select | ENSP00000364265.3:n.*115A>T | |
| ENST00000375123.4:c.*115A>T | ENSP00000364265.3:n.*115A>T | |
| NM_004473.3:c.*115A>T | NP_004464.2:n.*115A>T | |
| NM_004473.4:c.*115A>T MANE Select | NP_004464.2:n.*115A>T |