Linked Data
ClinVar Variation Id:
2185051
ClinVar RCV Id:
RCV002619643
dbSNP Id:
rs937120943
gnomAD v2:
3-150690227-T-C
gnomAD v3:
3-150972440-T-C
gnomAD v4:
3-150972440-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150972440T>C , CM000665.2:g.150972440T>C | GRCh38 |
| NC_000003.11:g.150690227T>C , CM000665.1:g.150690227T>C | GRCh37 |
| NC_000003.10:g.152172917T>C | NCBI36 |
| NG_009168.1:g.5560A>G , LRG_700:g.5560A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.253+16A>G MANE Select | ENSP00000322280.1:n.253+16A>G | |
| ENST00000468836.2:c.229+16A>G | ENSP00000419892.2:n.229+16A>G | |
| ENST00000644099.1:c.94+16A>G | ENSP00000494762.1:n.94+16A>G | |
| ENST00000645441.1:c.95+16A>G | ||
| ENST00000327047.5:c.253+16A>G | ENSP00000322280.1:n.253+16A>G | |
| ENST00000328863.8:c.253+16A>G | ENSP00000329158.4:n.253+16A>G | |
| ENST00000468836.1:c.-148+16A>G | ENSP00000419892.1:n.-148+16A>G | |
| ENST00000472224.1:n.259+16A>G | ||
| NM_001195794.1:c.253+16A>G , LRG_700t1:c.253+16A>G | NP_001182723.1:n.253+16A>G | |
| NM_001256819.1:c.253+16A>G | NP_001243748.1:n.253+16A>G | |
| NM_174878.2:c.253+16A>G | NP_777367.1:n.253+16A>G | |
| NR_046380.2:n.544+16A>G | ||
| XR_924167.1:n.565+16A>G | ||
| NM_001256819.2:c.253+16A>G | NP_001243748.1:n.253+16A>G | |
| NM_174878.3:c.253+16A>G MANE Select | NP_777367.1:n.253+16A>G | |
| NR_046380.3:n.272+16A>G |