Linked Data
ClinVar Variation Id:
848589
ClinVar RCV Id:
RCV001052373
dbSNP Id:
rs1899172049
gnomAD v4:
15-96332322-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.96332322C>T , CM000677.2:g.96332322C>T | GRCh38 |
| NC_000015.9:g.96875551C>T , CM000677.1:g.96875551C>T | GRCh37 |
| NC_000015.8:g.94676555C>T | NCBI36 |
| NG_016753.1:g.11395C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394166.8:c.217C>T MANE Select | ENSP00000377721.3:p.Gln73Ter | |
| ENST00000394166.7:c.217C>T | ENSP00000377721.3:p.Gln73Ter | |
| ENST00000421109.6:c.44-1754C>T | ENSP00000401674.2:n.44-1754C>T | |
| NM_001145155.1:c.44-1754C>T | NP_001138627.1:n.44-1754C>T | |
| NM_021005.3:c.217C>T | NP_066285.1:p.Gln73Ter | |
| NM_021005.4:c.217C>T MANE Select | NP_066285.1:p.Gln73Ter | |
| NM_001145155.2:c.44-1754C>T | NP_001138627.1:n.44-1754C>T |