Linked Data
ClinVar Variation Id:
509473
ClinVar RCV Id:
RCV000603545
dbSNP Id:
rs1369155614
gnomAD v2:
3-33155525-T-G
gnomAD v4:
3-33114033-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33114033T>G , CM000665.2:g.33114033T>G | GRCh38 |
| NC_000003.11:g.33155525T>G , CM000665.1:g.33155525T>G | GRCh37 |
| NC_000003.10:g.33130529T>G | NCBI36 |
| NG_008122.1:g.5076T>G , LRG_4:g.5076T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320954.11:c.-45T>G MANE Select | ENSP00000323696.5:n.-45T>G | |
| ENST00000320954.10:c.-45T>G | ENSP00000323696.5:n.-45T>G | |
| NM_006371.4:c.-45T>G , LRG_4t1:c.-45T>G | NP_006362.1:n.-45T>G | |
| NM_006371.5:c.-45T>G MANE Select | NP_006362.1:n.-45T>G | |
| NM_001393363.1:c.-45T>G | NP_001380292.1:n.-45T>G | |
| NM_001393364.1:c.-45T>G | NP_001380293.1:n.-45T>G | |
| NM_001393365.1:c.-45T>G | NP_001380294.1:n.-45T>G |