Linked Data
ClinVar Variation Id:
337514
ClinVar RCV Id:
RCV000316831
dbSNP Id:
rs886056453
gnomAD v2:
2-96931717-C-T
gnomAD v4:
2-96265979-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96265979C>T , CM000664.2:g.96265979C>T | GRCh38 |
| NC_000002.11:g.96931717C>T , CM000664.1:g.96931717C>T | GRCh37 |
| NC_000002.10:g.96295444C>T | NCBI36 |
| NG_027695.1:g.5035G>A , LRG_528:g.5035G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258439.8:c.-242G>A MANE Select | ENSP00000258439.3:n.-242G>A | |
| ENST00000258439.7:c.-242G>A | ENSP00000258439.2:n.-242G>A | |
| ENST00000432959.1:c.-219G>A | ENSP00000416660.1:n.-219G>A | |
| NM_001193304.2:c.-219G>A | NP_001180233.1:n.-219G>A | |
| NM_017849.3:c.-242G>A , LRG_528t1:c.-242G>A | NP_060319.1:n.-242G>A | |
| NM_001193304.3:c.-219G>A | NP_001180233.1:n.-219G>A | |
| NM_017849.4:c.-242G>A MANE Select | NP_060319.1:n.-242G>A |