gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.37523837A>T , CM000664.2:g.37523837A>T | GRCh38 |
| NC_000002.11:g.37750980A>T , CM000664.1:g.37750980A>T | GRCh37 |
| NC_000002.10:g.37604484A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_939962.1:n.95-13158A>T | ||
| XR_939964.1:n.95-13158A>T | ||
| XR_939965.1:n.138-13158A>T | ||
| XR_939966.1:n.124-132A>T | ||
| XR_939967.1:n.124-13158A>T | ||
| XR_939969.1:n.95-13158A>T | ||
| XR_001739404.1:n.1361-13158A>T | ||
| XR_001739405.1:n.53-13158A>T | ||
| XR_939962.3:n.1358-13158A>T | ||
| XR_939964.2:n.1355-13158A>T | ||
| XR_939967.2:n.150-13158A>T |