Linked Data
ClinVar Variation Id:
801892
ClinVar RCV Id:
RCV000987026
dbSNP Id:
rs551544754
gnomAD v2:
2-215674416-G-A
gnomAD v3:
2-214809692-G-A
gnomAD v4:
2-214809692-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214809692G>A , CM000664.2:g.214809692G>A | GRCh38 |
| NC_000002.11:g.215674416G>A , CM000664.1:g.215674416G>A | GRCh37 |
| NC_000002.10:g.215382661G>A | NCBI36 |
| NG_012047.2:g.5013C>T | |
| NG_012047.3:g.5020C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.8:c.-123C>T | ENSP00000260947.4:n.-123C>T | |
| ENST00000613374.4:c.-123C>T | ENSP00000484464.1:n.-123C>T | |
| ENST00000613706.4:c.-123C>T | ENSP00000484976.1:n.-123C>T | |
| ENST00000617164.4:c.-123C>T | ENSP00000480470.1:n.-123C>T | |
| ENST00000619009.4:c.-123C>T | ENSP00000482293.1:n.-123C>T | |
| NM_000465.3:c.-123C>T | NP_000456.2:n.-123C>T | |
| NM_001282543.1:c.-123C>T | NP_001269472.1:n.-123C>T | |
| NM_001282545.1:c.-123C>T | NP_001269474.1:n.-123C>T | |
| NM_001282548.1:c.-123C>T | NP_001269477.1:n.-123C>T | |
| NM_001282549.1:c.-123C>T | NP_001269478.1:n.-123C>T | |
| NR_104212.1:n.20C>T | ||
| NR_104215.1:n.20C>T | ||
| NR_104216.1:n.20C>T | ||
| XM_011511568.1:c.-123C>T | XP_011509870.1:n.-123C>T |