Linked Data
ClinVar Variation Id:
2858642
ClinVar RCV Id:
RCV003699467
dbSNP Id:
rs764348919
gnomAD v4:
9-72820989-G-C
MyVariant Identifiers:
chr9:g.75435905G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72820989G>C , CM000671.2:g.72820989G>C | GRCh38 |
| NC_000009.11:g.75435905G>C , CM000671.1:g.75435905G>C | GRCh37 |
| NC_000009.10:g.74625725G>C | NCBI36 |
| NG_008213.1:g.304189G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.1911G>C MANE Select | ENSP00000297784.6:p.Leu637= | |
| ENST00000644967.1:c.*351G>C | ENSP00000496159.1:n.*351G>C | |
| ENST00000645053.1:c.1258-5880G>C | ENSP00000493838.1:n.1258-5880G>C | |
| ENST00000645208.2:c.1911G>C | ENSP00000494684.1:p.Leu637= | |
| ENST00000645773.1:c.1785G>C | ENSP00000493698.1:p.Leu595= | |
| ENST00000645787.1:n.2054G>C | ||
| ENST00000646619.1:c.1473G>C | ENSP00000493726.1:p.Leu491= | |
| ENST00000651183.1:c.1473G>C | ENSP00000498723.1:p.Leu491= | |
| ENST00000297784.9:c.1911G>C | ENSP00000297784.5:p.Leu637= | |
| ENST00000340019.4:c.1911G>C | ENSP00000341433.3:p.Leu637= | |
| ENST00000469455.1:n.392G>C | ||
| ENST00000486417.5:n.809G>C | ||
| NM_138691.2:c.1911G>C | NP_619636.2:p.Leu637= | |
| XM_011518213.1:c.2499G>C | XP_011516515.1:p.Leu833= | |
| XM_017014256.1:c.1914G>C | XP_016869745.1:p.Leu638= | |
| NM_138691.3:c.1911G>C MANE Select | NP_619636.2:p.Leu637= |