Linked Data
ClinVar Variation Id:
2702650
ClinVar RCV Id:
RCV003577463
MyVariant Identifiers:
chr6:g.3155033C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154799C>T , CM000668.2:g.3154799C>T | GRCh38 |
| NC_000006.11:g.3155033C>T , CM000668.1:g.3155033C>T | GRCh37 |
| NC_000006.10:g.3100032C>T | NCBI36 |
| NG_042223.1:g.7751G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.402G>A MANE Select | ENSP00000369703.2:p.Gln134= | |
| ENST00000679400.1:n.458G>A | ||
| ENST00000679907.1:n.790G>A | ||
| ENST00000680036.1:n.1184G>A | ||
| ENST00000680967.1:n.1492G>A | ||
| ENST00000333628.3:c.402G>A | ENSP00000369703.2:p.Gln134= | |
| ENST00000489942.1:n.597G>A | ||
| NM_001069.2:c.402G>A | NP_001060.1:p.Gln134= | |
| NM_001310315.1:c.147G>A | NP_001297244.1:p.Gln49= | |
| NM_001069.3:c.402G>A MANE Select | NP_001060.1:p.Gln134= | |
| NM_001310315.2:c.147G>A | NP_001297244.1:p.Gln49= |