Linked Data
ClinVar Variation Id:
1259556
ClinVar RCV Id:
RCV001673932
dbSNP Id:
rs170364
gnomAD v2:
16-57409934-T-G
gnomAD v3:
16-57376022-T-G
gnomAD v4:
16-57376022-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57376022T>G , CM000678.2:g.57376022T>G | GRCh38 |
| NC_000016.9:g.57409934T>G , CM000678.1:g.57409934T>G | GRCh37 |
| NC_000016.8:g.55967435T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000006053.7:c.70+3384T>G MANE Select | ENSP00000006053.6:n.70+3384T>G | |
| ENST00000006053.6:c.70+3384T>G | ENSP00000006053.6:n.70+3384T>G | |
| ENST00000563383.1:c.70+3384T>G | ENSP00000456830.1:n.70+3384T>G | |
| ENST00000564948.1:c.70+3384T>G | ENSP00000457996.1:n.70+3384T>G | |
| NM_001304392.1:c.-65+3384T>G | NP_001291321.1:n.-65+3384T>G | |
| NM_002996.4:c.70+3384T>G | NP_002987.1:n.70+3384T>G | |
| NM_001304392.2:c.-65+3384T>G | NP_001291321.1:n.-65+3384T>G | |
| NM_002996.5:c.70+3384T>G | NP_002987.1:n.70+3384T>G | |
| NM_002996.6:c.70+3384T>G MANE Select | NP_002987.1:n.70+3384T>G | |
| NM_001304392.3:c.-65+3384T>G | NP_001291321.1:n.-65+3384T>G |