Linked Data
ClinVar Variation Id:
372223
ClinVar RCV Id:
RCV000412577
dbSNP Id:
rs1057517679
gnomAD v4:
4-105449391-T-C
PubMed:
PMID:27523598
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.105449391T>C , CM000666.2:g.105449391T>C | GRCh38 |
| NC_000004.11:g.106370548T>C , CM000666.1:g.106370548T>C | GRCh37 |
| NC_000004.10:g.106589997T>C | NCBI36 |
| NG_053007.1:g.29680A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341695.10:c.280A>G MANE Select | ENSP00000343885.5:p.Met94Val | |
| ENST00000341695.9:c.280A>G | ENSP00000343885.5:p.Met94Val | |
| ENST00000348706.9:c.280A>G | ENSP00000313061.8:p.Met94Val | |
| ENST00000351450.10:c.*2A>G | ENSP00000273977.9:n.*2A>G | |
| ENST00000354147.7:c.157+24503A>G | ENSP00000340352.3:n.157+24503A>G | |
| ENST00000432483.6:c.222+7290A>G | ENSP00000389957.2:n.222+7290A>G | |
| ENST00000457404.6:n.292A>G | ||
| ENST00000499847.6:n.289A>G | ||
| ENST00000502596.5:c.43A>G | ENSP00000426347.1:p.Met15Val | |
| ENST00000502833.5:n.289A>G | ||
| ENST00000503171.5:n.186A>G | ||
| ENST00000504028.5:c.265A>G | ENSP00000421177.1:p.Met89Val | |
| ENST00000506815.5:c.152A>G | ENSP00000422405.1:n.152A>G | |
| ENST00000508518.5:c.258-2889A>G | ||
| ENST00000509031.5:c.*39A>G | ENSP00000423467.1:n.*39A>G | |
| ENST00000509426.5:n.289A>G | ||
| ENST00000510015.5:c.222+7290A>G | ENSP00000423363.1:n.222+7290A>G | |
| ENST00000513649.1:c.280A>G | ENSP00000422738.1:p.Met94Val | |
| ENST00000514209.5:c.*2A>G | ENSP00000424988.1:n.*2A>G | |
| NM_006903.4:c.280A>G | NP_008834.3:p.Met94Val | |
| NM_176866.2:c.222+7290A>G | NP_789842.2:n.222+7290A>G | |
| NM_176867.3:c.157+24503A>G | NP_789843.2:n.157+24503A>G | |
| NM_176869.2:c.280A>G | NP_789845.1:p.Met94Val | |
| NM_176869.3:c.280A>G MANE Select | NP_789845.1:p.Met94Val |