Linked Data
ClinVar Variation Id:
2028475
ClinVar RCV Id:
RCV002876157
gnomAD v4:
6-3154775-G-A
MyVariant Identifiers:
chr6:g.3155009G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154775G>A , CM000668.2:g.3154775G>A | GRCh38 |
| NC_000006.11:g.3155009G>A , CM000668.1:g.3155009G>A | GRCh37 |
| NC_000006.10:g.3100008G>A | NCBI36 |
| NG_042223.1:g.7775C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.426C>T MANE Select | ENSP00000369703.2:p.Gly142= | |
| ENST00000679400.1:n.482C>T | ||
| ENST00000679907.1:n.814C>T | ||
| ENST00000680036.1:n.1208C>T | ||
| ENST00000680967.1:n.1516C>T | ||
| ENST00000333628.3:c.426C>T | ENSP00000369703.2:p.Gly142= | |
| ENST00000489942.1:n.621C>T | ||
| NM_001069.2:c.426C>T | NP_001060.1:p.Gly142= | |
| NM_001310315.1:c.171C>T | NP_001297244.1:p.Gly57= | |
| NM_001069.3:c.426C>T MANE Select | NP_001060.1:p.Gly142= | |
| NM_001310315.2:c.171C>T | NP_001297244.1:p.Gly57= |