Linked Data
ClinVar Variation Id:
2629381
ClinVar RCV Id:
RCV003412168
dbSNP Id:
rs902876049
gnomAD v2:
8-10470393-A-C
gnomAD v3:
8-10612883-A-C
gnomAD v4:
8-10612883-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10612883A>C , CM000670.2:g.10612883A>C | GRCh38 |
| NC_000008.10:g.10470393A>C , CM000670.1:g.10470393A>C | GRCh37 |
| NC_000008.9:g.10507803A>C | NCBI36 |
| NG_028035.1:g.47225T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.1215T>G MANE Select | ENSP00000371923.3:p.Tyr405Ter | |
| ENST00000382483.3:c.1215T>G | ENSP00000371923.3:p.Tyr405Ter | |
| NM_178857.5:c.1215T>G | NP_849188.4:p.Tyr405Ter | |
| NM_178857.6:c.1215T>G MANE Select | NP_849188.4:p.Tyr405Ter |