Linked Data
gnomAD v4:
8-81478715-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478715A>G , CM000670.2:g.81478715A>G | GRCh38 |
| NC_000008.10:g.82390950A>G , CM000670.1:g.82390950A>G | GRCh37 |
| NC_000008.9:g.82553505A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256104.5:c.*150T>C MANE Select | ENSP00000256104.4:n.*150T>C | |
| ENST00000256104.4:c.*150T>C | ENSP00000256104.4:n.*150T>C | |
| ENST00000518669.5:n.484T>C | ||
| ENST00000521734.1:n.758T>C | ||
| ENST00000522659.1:c.*425T>C | ENSP00000428385.1:n.*425T>C | |
| NM_001442.2:c.*150T>C | NP_001433.1:n.*150T>C | |
| XR_001745980.1:n.514+16741A>G | ||
| NM_001442.3:c.*150T>C MANE Select | NP_001433.1:n.*150T>C |