gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000804 (AFR)
Genomes Max Group AF
0.00000804 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2835964A>T , CM000673.2:g.2835964A>T | GRCh38 |
| NC_000011.9:g.2857194A>T , CM000673.1:g.2857194A>T | GRCh37 |
| NC_000011.8:g.2813770A>T | NCBI36 |
| NG_008935.1:g.395974A>T , LRG_287:g.395974A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1438-11803A>T | ENSP00000434560.2:n.1438-11803A>T | |
| ENST00000646564.2:c.1255-3752A>T | ENSP00000495806.2:n.1255-3752A>T | |
| ENST00000155840.12:c.1795-11803A>T MANE Select | ENSP00000155840.2:n.1795-11803A>T | |
| ENST00000335475.6:c.1414-11803A>T | ENSP00000334497.5:n.1414-11803A>T | |
| ENST00000526095.2:c.199-11803A>T | ENSP00000494939.1:n.199-11803A>T | |
| ENST00000646564.1:c.901-3752A>T | ENSP00000495806.1:n.901-3752A>T | |
| ENST00000155840.9:c.1795-11803A>T | ENSP00000155840.2:n.1795-11803A>T | |
| ENST00000335475.5:c.1414-11803A>T | ENSP00000334497.5:n.1414-11803A>T | |
| ENST00000526095.1:n.302-11803A>T | ||
| NM_000218.2:c.1795-11803A>T , LRG_287t1:c.1795-11803A>T | NP_000209.2:n.1795-11803A>T | |
| NM_181798.1:c.1414-11803A>T , LRG_287t2:c.1414-11803A>T | NP_861463.1:n.1414-11803A>T | |
| NM_000218.3:c.1795-11803A>T MANE Select | NP_000209.2:n.1795-11803A>T |