Linked Data
ClinVar Variation Id:
377636
ClinVar RCV Id:
RCV000434848
dbSNP Id:
rs1048595019
gnomAD v2:
16-68771287-C-G
gnomAD v3:
16-68737384-C-G
gnomAD v4:
16-68737384-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68737384C>G , CM000678.2:g.68737384C>G | GRCh38 |
| NC_000016.9:g.68771287C>G , CM000678.1:g.68771287C>G | GRCh37 |
| NC_000016.8:g.67328788C>G | NCBI36 |
| NG_008021.1:g.5093C>G , LRG_301:g.5093C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.-32C>G MANE Select | ENSP00000261769.4:n.-32C>G | |
| ENST00000261769.9:c.-32C>G | ENSP00000261769.4:n.-32C>G | |
| ENST00000422392.6:c.-32C>G | ENSP00000414946.2:n.-32C>G | |
| ENST00000566510.5:c.-32C>G | ENSP00000458139.1:n.-32C>G | |
| ENST00000566612.5:c.-32C>G | ENSP00000454782.1:n.-32C>G | |
| ENST00000611625.4:c.-32C>G | ENSP00000481063.1:n.-32C>G | |
| ENST00000612417.4:c.-32C>G | ENSP00000478360.1:n.-32C>G | |
| ENST00000621016.4:c.-32C>G | ENSP00000480664.1:n.-32C>G | |
| NM_004360.3:c.-32C>G , LRG_301t1:c.-32C>G | NP_004351.1:n.-32C>G | |
| NM_001317184.1:c.-32C>G | NP_001304113.1:n.-32C>G | |
| NM_001317185.1:c.-1647C>G | NP_001304114.1:n.-1647C>G | |
| NM_001317186.1:c.-1851C>G | NP_001304115.1:n.-1851C>G | |
| NM_004360.4:c.-32C>G | NP_004351.1:n.-32C>G | |
| NM_004360.5:c.-32C>G MANE Select | NP_004351.1:n.-32C>G | |
| NM_001317184.2:c.-32C>G | NP_001304113.1:n.-32C>G | |
| NM_001317185.2:c.-1647C>G | NP_001304114.1:n.-1647C>G | |
| NM_001317186.2:c.-1851C>G | NP_001304115.1:n.-1851C>G |