gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19570389A>T , CM000686.2:g.19570389A>T | GRCh38 |
| NC_000024.9:g.21732275A>T , CM000686.1:g.21732275A>T | GRCh37 |
| NC_000024.8:g.20191663A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686158.1:n.199+2819A>T | ||
| ENST00000686905.1:n.133+2907A>T | ||
| ENST00000693214.1:n.221+2819A>T | ||
| ENST00000445715.6:n.101+2907A>T | ||
| ENST00000407724.7:n.170+2907A>T | ||
| ENST00000445715.5:n.101+2907A>T | ||
| ENST00000447202.2:n.123+2438A>T | ||
| ENST00000447520.5:n.101+2907A>T | ||
| ENST00000459719.6:n.221+2819A>T | ||
| ENST00000538014.2:n.240+930A>T | ||
| NR_045128.1:n.125+2907A>T | ||
| NR_045129.1:n.125+2907A>T |