Linked Data
ClinVar Variation Id:
2567074
ClinVar RCV Id:
RCV003311064
MyVariant Identifiers:
chr1:g.241667376C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241504076C>T , CM000663.2:g.241504076C>T | GRCh38 |
| NC_000001.10:g.241667376C>T , CM000663.1:g.241667376C>T | GRCh37 |
| NC_000001.9:g.239733999C>T | NCBI36 |
| NG_012338.1:g.20679G>A , LRG_504:g.20679G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1577G>A | ||
| ENST00000682162.1:c.1103G>A | ENSP00000508203.1:n.1103G>A | |
| ENST00000682567.1:n.1151G>A | ||
| ENST00000683521.1:c.1074G>A | ENSP00000506864.1:p.Leu358= | |
| ENST00000684161.1:n.2289G>A | ||
| ENST00000684483.1:c.*470G>A | ENSP00000507894.1:n.*470G>A | |
| ENST00000366560.4:c.1074G>A MANE Select | ENSP00000355518.4:p.Leu358= | |
| ENST00000366560.3:c.1074G>A | ENSP00000355518.3:p.Leu358= | |
| NM_000143.3:c.1074G>A , LRG_504t1:c.1074G>A | NP_000134.2:p.Leu358= | |
| XM_011544132.1:c.846G>A | XP_011542434.1:p.Leu282= | |
| XM_011544132.2:c.846G>A | XP_011542434.1:p.Leu282= | |
| NM_000143.4:c.1074G>A MANE Select | NP_000134.2:p.Leu358= |