Linked Data
ClinVar Variation Id:
372222
dbSNP Id:
rs146013446
ExAC:
4:106359121 C / T
gnomAD v2:
4-106359121-C-T
gnomAD v3:
4-105437964-C-T
gnomAD v4:
4-105437964-C-T
COSMIC:
COSM1049772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.105437964C>T , CM000666.2:g.105437964C>T | GRCh38 |
| NC_000004.11:g.106359121C>T , CM000666.1:g.106359121C>T | GRCh37 |
| NC_000004.10:g.106578570C>T | NCBI36 |
| NG_053007.1:g.41107G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341695.10:c.514G>A MANE Select | ENSP00000343885.5:p.Glu172Lys | |
| ENST00000341695.9:c.514G>A | ENSP00000343885.5:p.Glu172Lys | |
| ENST00000348706.9:c.441+8419G>A | ENSP00000313061.8:n.441+8419G>A | |
| ENST00000351450.10:c.*236G>A | ENSP00000273977.9:n.*236G>A | |
| ENST00000354147.7:c.157+35930G>A | ENSP00000340352.3:n.157+35930G>A | |
| ENST00000432483.6:c.223-13642G>A | ENSP00000389957.2:n.223-13642G>A | |
| ENST00000457404.6:n.526G>A | ||
| ENST00000502833.5:n.523G>A | ||
| ENST00000503171.5:n.347+8419G>A | ||
| ENST00000504028.5:c.499G>A | ENSP00000421177.1:p.Glu167Lys | |
| ENST00000506815.5:c.386G>A | ENSP00000422405.1:n.386G>A | |
| ENST00000508518.5:c.450G>A | ||
| ENST00000509031.5:c.*273G>A | ENSP00000423467.1:n.*273G>A | |
| ENST00000509426.5:n.523G>A | ||
| ENST00000510015.5:c.295G>A | ENSP00000423363.1:p.Glu99Lys | |
| ENST00000514209.5:c.*163+8419G>A | ENSP00000424988.1:n.*163+8419G>A | |
| ENST00000515567.5:c.142+8419G>A | ||
| NM_006903.4:c.441+8419G>A | NP_008834.3:n.441+8419G>A | |
| NM_176866.2:c.223-13642G>A | NP_789842.2:n.223-13642G>A | |
| NM_176867.3:c.157+35930G>A | NP_789843.2:n.157+35930G>A | |
| NM_176869.2:c.514G>A | NP_789845.1:p.Glu172Lys | |
| NM_176869.3:c.514G>A MANE Select | NP_789845.1:p.Glu172Lys |