Linked Data
dbSNP Id:
rs1361053943
gnomAD v2:
8-82390836-C-T
gnomAD v3:
8-81478601-C-T
gnomAD v4:
8-81478601-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478601C>T , CM000670.2:g.81478601C>T | GRCh38 |
| NC_000008.10:g.82390836C>T , CM000670.1:g.82390836C>T | GRCh37 |
| NC_000008.9:g.82553391C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256104.5:c.*264G>A MANE Select | ENSP00000256104.4:n.*264G>A | |
| ENST00000256104.4:c.*264G>A | ENSP00000256104.4:n.*264G>A | |
| NM_001442.2:c.*264G>A | NP_001433.1:n.*264G>A | |
| XR_001745980.1:n.514+16627C>T | ||
| NM_001442.3:c.*264G>A MANE Select | NP_001433.1:n.*264G>A |