Linked Data
dbSNP Id:
rs11073328
gnomAD v2:
15-38764843-C-T
gnomAD v3:
15-38472642-C-T
gnomAD v4:
15-38472642-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38472642C>T , CM000677.2:g.38472642C>T | GRCh38 |
| NC_000015.9:g.38764843C>T , CM000677.1:g.38764843C>T | GRCh37 |
| NC_000015.8:g.36552135C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397609.6:c.532-863C>T MANE Select | ENSP00000380734.2:n.532-863C>T | |
| ENST00000491535.5:c.532-863C>T | ENSP00000453166.1:n.532-863C>T | |
| ENST00000559431.1:c.238-863C>T | ENSP00000453926.1:n.238-863C>T | |
| NM_173611.3:c.532-863C>T | NP_775882.2:n.532-863C>T | |
| NM_173611.4:c.532-863C>T MANE Select | NP_775882.2:n.532-863C>T |