gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3073068A>T , CM000666.2:g.3073068A>T | GRCh38 |
| NC_000004.11:g.3074795A>T , CM000666.1:g.3074795A>T | GRCh37 |
| NC_000004.10:g.3044593A>T | NCBI36 |
| NG_009378.1:g.3388A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647962.1:n.1203-290A>T (HTT) | ||
| ENST00000649900.1:n.504-13871A>T (HTT) | ||
| ENST00000680239.1:c.6-13871A>T (HTT) | ENSP00000506169.1:n.6-13871A>T | |
| ENST00000680360.1:c.6-13871A>T (HTT) | ENSP00000505014.1:n.6-13871A>T | |
| ENST00000680956.1:c.6-13871A>T (HTT) | ENSP00000506029.1:n.6-13871A>T | |
| ENST00000681528.1:c.6-13871A>T (HTT) | ENSP00000506116.1:n.6-13871A>T | |
| NR_045414.1:n.89+1358T>A (HTT-AS) |