Linked Data
ClinVar Variation Id:
310114
dbSNP Id:
rs115164694
gnomAD v2:
12-6451076-G-A
gnomAD v3:
12-6341910-G-A
gnomAD v4:
12-6341910-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6341910G>A , CM000674.2:g.6341910G>A | GRCh38 |
| NC_000012.11:g.6451076G>A , CM000674.1:g.6451076G>A | GRCh37 |
| NC_000012.10:g.6321337G>A | NCBI36 |
| NG_007506.1:g.5186C>T , LRG_193:g.5186C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437813.8:c.-96C>T | ENSP00000513672.1:n.-96C>T | |
| ENST00000440083.7:c.-96C>T | ENSP00000413224.3:n.-96C>T | |
| ENST00000535958.2:c.-96C>T | ENSP00000513673.1:n.-96C>T | |
| ENST00000698339.1:c.-96C>T | ENSP00000513670.1:n.-96C>T | |
| ENST00000698340.1:c.-96C>T | ENSP00000513671.1:n.-96C>T | |
| ENST00000162749.7:c.-96C>T MANE Select | ENSP00000162749.2:n.-96C>T | |
| ENST00000162749.6:c.-96C>T | ENSP00000162749.2:n.-96C>T | |
| ENST00000440083.6:c.-96C>T | ENSP00000413224.2:n.-96C>T | |
| ENST00000534885.5:c.-96C>T | ENSP00000441803.1:n.-96C>T | |
| ENST00000535958.1:n.126C>T | ||
| ENST00000536194.1:c.-96C>T | ENSP00000442919.1:n.-96C>T | |
| ENST00000538363.1:n.95C>T | ||
| ENST00000539372.5:c.-96C>T | ENSP00000442059.1:n.-96C>T | |
| ENST00000540022.5:c.-96C>T | ENSP00000438343.1:n.-96C>T | |
| ENST00000543048.5:c.-96C>T | ENSP00000439981.1:n.-96C>T | |
| ENST00000543995.5:c.-96C>T | ENSP00000442405.1:n.-96C>T | |
| NM_001065.3:c.-96C>T , LRG_193t1:c.-96C>T | NP_001056.1:n.-96C>T | |
| NM_001346091.1:c.-266C>T | NP_001333020.1:n.-266C>T | |
| NM_001346092.1:c.-673C>T | NP_001333021.1:n.-673C>T | |
| NR_144351.1:n.208C>T | ||
| NM_001065.4:c.-96C>T MANE Select | NP_001056.1:n.-96C>T | |
| NM_001346091.2:c.-266C>T | NP_001333020.1:n.-266C>T | |
| NM_001346092.2:c.-673C>T | NP_001333021.1:n.-673C>T | |
| NR_144351.2:n.167C>T |