Linked Data
dbSNP Id:
rs886822284
gnomAD v2:
15-75047553-C-A
gnomAD v3:
15-74755212-C-A
gnomAD v4:
15-74755212-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74755212C>A , CM000677.2:g.74755212C>A | GRCh38 |
| NC_000015.9:g.75047553C>A , CM000677.1:g.75047553C>A | GRCh37 |
| NC_000015.8:g.72834606C>A | NCBI36 |
| NG_008431.1:g.37671C>A | |
| NG_008431.2:g.37671C>A | |
| NG_061543.1:g.11368C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.*124C>A MANE Select | ENSP00000342007.4:n.*124C>A | |
| ENST00000343932.4:c.*124C>A | ENSP00000342007.4:n.*124C>A | |
| NM_000761.4:c.*124C>A | NP_000752.2:n.*124C>A | |
| NM_000761.5:c.*124C>A MANE Select | NP_000752.2:n.*124C>A |