Linked Data
ClinVar Variation Id:
768403
ClinVar RCV Id:
RCV000947301
dbSNP Id:
rs2515641
gnomAD v3:
10-133537858-C-T
gnomAD v4:
10-133537858-C-T
MyVariant Identifiers:
chr10:g.133537858C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133537858C>T , CM000672.2:g.133537858C>T | GRCh38 |
| NG_008383.1:g.15496C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252945.8:c.1263C>T MANE Select | ENSP00000252945.3:p.Phe421= | |
| ENST00000252945.7:c.1263C>T | ENSP00000252945.3:p.Phe421= | |
| ENST00000368520.1:n.1324C>T | ||
| ENST00000418356.1:c.852C>T | ENSP00000397299.1:p.Phe284= | |
| ENST00000421586.5:c.1002C>T | ENSP00000412754.1:p.Phe334= | |
| ENST00000463117.6:c.1263C>T | ENSP00000440689.1:p.Phe421= | |
| ENST00000469258.1:n.359C>T | ||
| ENST00000541080.5:c.679C>T | ||
| NM_000773.3:c.1263C>T | NP_000764.1:p.Phe421= | |
| NM_000773.4:c.1263C>T MANE Select | NP_000764.1:p.Phe421= |