Linked Data
ClinVar Variation Id:
2040146
ClinVar RCV Id:
RCV002908074
MyVariant Identifiers:
chr8:g.19797003C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19939492C>T , CM000670.2:g.19939492C>T | GRCh38 |
| NC_000008.10:g.19797003C>T , CM000670.1:g.19797003C>T | GRCh37 |
| NC_000008.9:g.19841283C>T | NCBI36 |
| NG_008855.1:g.5422C>T | |
| NG_008855.2:g.42776C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.52C>T MANE Select | ENSP00000497642.1:p.Leu18= | |
| ENST00000311322.8:c.52C>T | ENSP00000309757.6:p.Leu18= | |
| ENST00000519773.1:c.52C>T | ENSP00000431028.1:p.Leu18= | |
| ENST00000520959.5:c.-140-8688C>T | ENSP00000428496.1:n.-140-8688C>T | |
| ENST00000521994.1:n.237C>T | ||
| ENST00000522701.5:c.52C>T | ENSP00000428557.1:p.Leu18= | |
| ENST00000523696.1:n.121C>T | ||
| ENST00000524029.5:c.52C>T | ENSP00000428237.1:p.Leu18= | |
| NM_000237.2:c.52C>T | NP_000228.1:p.Leu18= | |
| NM_000237.3:c.52C>T MANE Select | NP_000228.1:p.Leu18= |