Linked Data
dbSNP Id:
rs1454273688
gnomAD v2:
8-82390956-G-A
gnomAD v3:
8-81478721-G-A
gnomAD v4:
8-81478721-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478721G>A , CM000670.2:g.81478721G>A | GRCh38 |
| NC_000008.10:g.82390956G>A , CM000670.1:g.82390956G>A | GRCh37 |
| NC_000008.9:g.82553511G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256104.5:c.*144C>T MANE Select | ENSP00000256104.4:n.*144C>T | |
| ENST00000256104.4:c.*144C>T | ENSP00000256104.4:n.*144C>T | |
| ENST00000518669.5:n.478C>T | ||
| ENST00000521734.1:n.752C>T | ||
| ENST00000522659.1:c.*419C>T | ENSP00000428385.1:n.*419C>T | |
| NM_001442.2:c.*144C>T | NP_001433.1:n.*144C>T | |
| XR_001745980.1:n.514+16747G>A | ||
| NM_001442.3:c.*144C>T MANE Select | NP_001433.1:n.*144C>T |