Linked Data
dbSNP Id:
rs754271095
ExAC:
11:67250595 C / G
gnomAD v2:
11-67250595-C-G
gnomAD v4:
11-67483124-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67483124C>G , CM000673.2:g.67483124C>G | GRCh38 |
| NC_000011.9:g.67250595C>G , CM000673.1:g.67250595C>G | GRCh37 |
| NC_000011.8:g.67007171C>G | NCBI36 |
| NG_008969.1:g.5091C>G , LRG_460:g.5091C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000528641.7:c.-35C>G | ENSP00000434982.3:n.-35C>G | |
| ENST00000682324.1:c.-35C>G | ENSP00000508017.1:n.-35C>G | |
| ENST00000682699.1:c.-35C>G | ENSP00000507935.1:n.-35C>G | |
| ENST00000683237.1:c.-35C>G | ENSP00000507343.1:n.-35C>G | |
| ENST00000684006.1:c.-35C>G | ENSP00000507269.1:n.-35C>G | |
| ENST00000684657.1:c.-35C>G | ENSP00000507961.1:n.-35C>G | |
| ENST00000279146.8:c.-35C>G MANE Select | ENSP00000279146.3:n.-35C>G | |
| ENST00000279146.7:c.-35C>G | ENSP00000279146.3:n.-35C>G | |
| ENST00000528641.6:c.-35C>G | ENSP00000434982.2:n.-35C>G | |
| ENST00000529797.1:n.76C>G | ||
| NM_001302960.1:c.-35C>G | NP_001289889.1:n.-35C>G | |
| NM_003977.3:c.-35C>G | NP_003968.3:n.-35C>G | |
| XM_024448761.1:c.-35C>G | XP_024304529.1:n.-35C>G | |
| NM_003977.4:c.-35C>G MANE Select | NP_003968.3:n.-35C>G | |
| NM_001302960.2:c.-35C>G | NP_001289889.1:n.-35C>G |