Linked Data
gnomAD v4:
8-81478613-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478613G>T , CM000670.2:g.81478613G>T | GRCh38 |
| NC_000008.10:g.82390848G>T , CM000670.1:g.82390848G>T | GRCh37 |
| NC_000008.9:g.82553403G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256104.5:c.*252C>A MANE Select | ENSP00000256104.4:n.*252C>A | |
| ENST00000256104.4:c.*252C>A | ENSP00000256104.4:n.*252C>A | |
| NM_001442.2:c.*252C>A | NP_001433.1:n.*252C>A | |
| XR_001745980.1:n.514+16639G>T | ||
| NM_001442.3:c.*252C>A MANE Select | NP_001433.1:n.*252C>A |