Linked Data
dbSNP Id:
rs148637032
ExAC:
8:37823315 C / T
gnomAD v2:
8-37823315-C-T
gnomAD v3:
8-37965797-C-T
gnomAD v4:
8-37965797-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965797C>T , CM000670.2:g.37965797C>T | GRCh38 |
| NC_000008.10:g.37823315C>T , CM000670.1:g.37823315C>T | GRCh37 |
| NC_000008.9:g.37942472C>T | NCBI36 |
| NG_011936.1:g.5870G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.673G>A MANE Select | ENSP00000343782.3:p.Ala225Thr | |
| ENST00000520341.2:n.801G>A | ||
| ENST00000647937.1:c.157G>A | ENSP00000497740.1:p.Ala53Thr | |
| ENST00000345060.4:c.673G>A | ENSP00000343782.3:p.Ala225Thr | |
| ENST00000614635.1:c.673G>A | ENSP00000480325.1:p.Ala225Thr | |
| NM_000025.2:c.673G>A | NP_000016.1:p.Ala225Thr | |
| NM_000025.3:c.673G>A MANE Select | NP_000016.1:p.Ala225Thr |