Linked Data
dbSNP Id:
rs752352945
ExAC:
8:10470185 T / A
gnomAD v2:
8-10470185-T-A
gnomAD v3:
8-10612675-T-A
gnomAD v4:
8-10612675-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10612675T>A , CM000670.2:g.10612675T>A | GRCh38 |
| NC_000008.10:g.10470185T>A , CM000670.1:g.10470185T>A | GRCh37 |
| NC_000008.9:g.10507595T>A | NCBI36 |
| NG_028035.1:g.47433A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.1423A>T MANE Select | ENSP00000371923.3:p.Thr475Ser | |
| ENST00000382483.3:c.1423A>T | ENSP00000371923.3:p.Thr475Ser | |
| NM_178857.5:c.1423A>T | NP_849188.4:p.Thr475Ser | |
| NM_178857.6:c.1423A>T MANE Select | NP_849188.4:p.Thr475Ser |