gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34446099A>T , CM000673.2:g.34446099A>T | GRCh38 |
| NC_000011.9:g.34467646A>T , CM000673.1:g.34467646A>T | GRCh37 |
| NC_000011.8:g.34424222A>T | NCBI36 |
| NG_013339.1:g.12175A>T | |
| NG_013339.2:g.12175A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241052.5:c.67-3093A>T MANE Select | ENSP00000241052.4:n.67-3093A>T | |
| ENST00000241052.4:c.67-3093A>T | ENSP00000241052.4:n.67-3093A>T | |
| NM_001752.3:c.67-3093A>T | NP_001743.1:n.67-3093A>T | |
| NM_001752.4:c.67-3093A>T MANE Select | NP_001743.1:n.67-3093A>T |