Linked Data
ClinVar Variation Id:
2006446
ClinVar RCV Id:
RCV002837755
MyVariant Identifiers:
chr3:g.39450140G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39408649G>C , CM000665.2:g.39408649G>C | GRCh38 |
| NC_000003.11:g.39450140G>C , CM000665.1:g.39450140G>C | GRCh37 |
| NC_000003.10:g.39425144G>C | NCBI36 |
| NG_033234.1:g.6937G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458478.6:c.177G>C | ENSP00000410848.2:p.Leu59= | |
| ENST00000478027.3:n.727G>C | ||
| ENST00000697728.1:c.177G>C | ENSP00000513422.1:p.Leu59= | |
| ENST00000697729.1:c.177G>C | ENSP00000513423.1:p.Leu59= | |
| ENST00000697730.1:c.177G>C | ENSP00000513424.1:p.Leu59= | |
| ENST00000697731.1:c.177G>C | ENSP00000513425.1:p.Leu59= | |
| ENST00000697732.1:n.165G>C | ||
| ENST00000697753.1:c.177G>C | ENSP00000513432.1:p.Leu59= | |
| ENST00000697816.1:c.*74G>C | ENSP00000513451.1:n.*74G>C | |
| ENST00000301821.11:c.177G>C MANE Select | ENSP00000346067.4:p.Leu59= | |
| ENST00000301821.10:c.177G>C | ENSP00000346067.4:p.Leu59= | |
| ENST00000443003.2:c.177G>C | ENSP00000389351.1:p.Leu59= | |
| ENST00000444512.2:c.177G>C | ENSP00000396716.2:p.Leu59= | |
| ENST00000458478.5:c.177G>C | ENSP00000410848.1:p.Leu59= | |
| ENST00000477325.1:n.259G>C | ||
| ENST00000478027.2:n.446G>C | ||
| NM_001304288.1:c.177G>C | NP_001291217.1:p.Leu59= | |
| NM_002295.5:c.177G>C | NP_002286.2:p.Leu59= | |
| NM_002295.6:c.177G>C MANE Select | NP_002286.2:p.Leu59= | |
| NM_001304288.2:c.177G>C | NP_001291217.1:p.Leu59= |