Linked Data
ClinVar Variation Id:
824477
ClinVar RCV Id:
RCV001021621
dbSNP Id:
rs989975901
gnomAD v2:
11-67250627-A-G
gnomAD v3:
11-67483156-A-G
gnomAD v4:
11-67483156-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67483156A>G , CM000673.2:g.67483156A>G | GRCh38 |
| NC_000011.9:g.67250627A>G , CM000673.1:g.67250627A>G | GRCh37 |
| NC_000011.8:g.67007203A>G | NCBI36 |
| NG_008969.1:g.5123A>G , LRG_460:g.5123A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528641.7:c.-3A>G | ENSP00000434982.3:n.-3A>G | |
| ENST00000682324.1:c.-3A>G | ENSP00000508017.1:n.-3A>G | |
| ENST00000682659.1:c.-3A>G | ENSP00000507351.1:n.-3A>G | |
| ENST00000682699.1:c.-3A>G | ENSP00000507935.1:n.-3A>G | |
| ENST00000683237.1:c.-3A>G | ENSP00000507343.1:n.-3A>G | |
| ENST00000684006.1:c.-3A>G | ENSP00000507269.1:n.-3A>G | |
| ENST00000684657.1:c.-3A>G | ENSP00000507961.1:n.-3A>G | |
| ENST00000279146.8:c.-3A>G MANE Select | ENSP00000279146.3:n.-3A>G | |
| ENST00000279146.7:c.-3A>G | ENSP00000279146.3:n.-3A>G | |
| ENST00000528641.6:c.-3A>G | ENSP00000434982.2:n.-3A>G | |
| ENST00000529797.1:n.108A>G | ||
| NM_001302960.1:c.-3A>G | NP_001289889.1:n.-3A>G | |
| NM_003977.3:c.-3A>G | NP_003968.3:n.-3A>G | |
| XM_024448761.1:c.-3A>G | XP_024304529.1:n.-3A>G | |
| NM_003977.4:c.-3A>G MANE Select | NP_003968.3:n.-3A>G | |
| NM_001302960.2:c.-3A>G | NP_001289889.1:n.-3A>G |