Linked Data
ClinVar Variation Id:
1419753
ClinVar RCV Id:
RCV001940733
dbSNP Id:
rs1235898043
gnomAD v3:
1-197128592-C-A
gnomAD v4:
1-197128592-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197128592C>A , CM000663.2:g.197128592C>A | GRCh38 |
| NC_000001.10:g.197097722C>A , CM000663.1:g.197097722C>A | GRCh37 |
| NC_000001.9:g.195364345C>A | NCBI36 |
| NG_015867.1:g.23103G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.786G>T | ||
| ENST00000367409.9:c.2834G>T MANE Select | ENSP00000356379.4:p.Gly945Val | |
| ENST00000680112.1:n.890G>T | ||
| ENST00000680265.1:c.2834G>T | ENSP00000505384.1:p.Gly945Val | |
| ENST00000680710.1:c.2834G>T | ENSP00000506676.1:p.Gly945Val | |
| ENST00000681879.1:c.2834G>T | ENSP00000505363.1:p.Gly945Val | |
| ENST00000294732.11:c.2834G>T | ENSP00000294732.7:p.Gly945Val | |
| ENST00000367408.5:c.584G>T | ENSP00000356378.1:p.Gly195Val | |
| ENST00000367409.8:c.2834G>T | ENSP00000356379.4:p.Gly945Val | |
| ENST00000612785.1:c.561+15099G>T | ENSP00000479244.1:n.561+15099G>T | |
| NM_001206846.1:c.2834G>T | NP_001193775.1:p.Gly945Val | |
| NM_018136.4:c.2834G>T | NP_060606.3:p.Gly945Val | |
| NM_018136.5:c.2834G>T MANE Select | NP_060606.3:p.Gly945Val | |
| NM_001206846.2:c.2834G>T | NP_001193775.1:p.Gly945Val |