Linked Data
ClinVar Variation Id:
703545
dbSNP Id:
rs777309744
ExAC:
2:29443662 C / T
gnomAD v2:
2-29443662-C-T
gnomAD v3:
2-29220796-C-T
gnomAD v4:
2-29220796-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220796C>T , CM000664.2:g.29220796C>T | GRCh38 |
| NC_000002.11:g.29443662C>T , CM000664.1:g.29443662C>T | GRCh37 |
| NC_000002.10:g.29297166C>T | NCBI36 |
| NG_009445.1:g.705771G>A , LRG_488:g.705771G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3555G>A MANE Select | ENSP00000373700.3:p.Val1185= | |
| ENST00000431873.6:c.782G>A | ||
| ENST00000638605.1:n.432G>A | ||
| ENST00000642122.1:c.351G>A | ENSP00000493203.1:p.Val117= | |
| ENST00000389048.7:c.3555G>A | ENSP00000373700.3:p.Val1185= | |
| ENST00000431873.5:c.435G>A | ENSP00000414027.2:p.Val145= | |
| ENST00000618119.4:c.2424G>A | ENSP00000482733.1:p.Val808= | |
| NM_004304.4:c.3555G>A | NP_004295.2:p.Val1185= | |
| NM_001353765.1:c.351G>A | NP_001340694.1:p.Val117= | |
| XM_024452778.1:c.708G>A | XP_024308546.1:p.Val236= | |
| XM_024452779.1:c.351G>A | XP_024308547.1:p.Val117= | |
| NM_004304.5:c.3555G>A MANE Select | NP_004295.2:p.Val1185= | |
| NM_001353765.2:c.351G>A | NP_001340694.1:p.Val117= |